Full data view for gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

296 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 47i_48i r.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Gln2366del) Maternal (confirmed) - VUS (!) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del - - DMD_014848 individual asymptomatic - - - Germline - - - - - DNA MAPH - - ? - - maternal brother M - - - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y - - medication steroids; no scoliosis surgery; 1 Manuel F. Mas Rodriguez
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y - - no medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >13y - - medication creatine; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48 del; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1877 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1877 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1890 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1890 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1551 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1551 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 2533 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2533 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 2327 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2327 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 2740 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2740 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1664 database - - Germline - - - - - DNA MLPA - - Healthy/Control - PubMed: Tuffery-Giraud 2009, UMD 1664 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 2886 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2886 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1682 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1682 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2501 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2501 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1986 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1986 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1922 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1922 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 1923 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1923 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tuffery-Giraud 2009, UMD 2199 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2199 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 carrier first cousin (female) PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - BMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - DMD - - multiple elevated CK levels M - Australia - - - - - 1 Peter Taylor
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(fs*?) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(del) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6615_6912del) p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - - - - Germline - - - - - DNA MLPA, SEQ - - BMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIPat1 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >8y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIIPat2 PubMed: Zimowski 2017, Journal: Zimowski 2017 2-generation family, 2 affecteds M no Poland - >4y - - - 2 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIIPat3 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >65y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIIIPat4 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >8y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIVPat5 PubMed: Zimowski 2017, Journal: Zimowski 2017 2-generation family, 3 affecteds M no Poland - >8y - - - 3 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIVPat6 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >36y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIVPat7 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >26y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVPat8 PubMed: Zimowski 2017, Journal: Zimowski 2017 2-generation family, 2 affecteds M no Poland - >14y - - - 2 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVPat9 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >68y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVIPat10 PubMed: Zimowski 2017, Journal: Zimowski 2017 4-generation family, 4 affecteds, 6 female carriers M no Poland - >4y - - - 3 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVIPat11 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >9y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVIPat12 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >65y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVIIPat13 PubMed: Zimowski 2017, Journal: Zimowski 2017 2-generation family, 2 affecteds M no Poland - >5y - - - 2 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVIIPat14 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >5y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamVIIIPat15 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >6y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIXPat16 PubMed: Zimowski 2017, Journal: Zimowski 2017 2-generation family, 2 affecteds M no Poland - >6y - - - 2 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.(6913_7098del) p.(Val2305_Lys2366del) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Zimowski 2017, Journal: Zimowski 2017 - - Germline - - - - - DNA MLPA - - - FamIXPat17 PubMed: Zimowski 2017, Journal: Zimowski 2017 - M no Poland - >2y - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del del ex48; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del del ex48; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del del ex48; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 2 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del del ex48; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D40 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del del ex48; c.(6912+1_6913-1)_(7098+1_7099-1)del - DMD_014848 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D59 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del del ex48, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del , c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 47i_48i c.(6809_7017)_(7017_7099-11)del r.? p.(del) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31893386_31947816)del g.(31836830_31875269)_(31875269_31929699)del ex48del, c.6913-?_7098+?del - DMD_014848 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
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