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.

51 entries on 1 page. Showing entries 1 - 51.
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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     
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 - - Unknown yes - - - - DNA PCR, PCRm - - ? - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 3-generation family, grandfather (3 unaffected heterozygous carrier daughters, 1 grand daughter), 3 affected grand sons M - Argentina - >69y - - - 4 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex44-55 - DMD_054555 - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 - - Germline yes - - - - DNA PCR, PCRm, MLPA - - - - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 grand son M no Argentina - >5y - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex44-55 - DMD_054555 - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 - - Germline yes - - - - DNA PCR, PCRm, MLPA - - ? - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 grand son M no Argentina - >19y - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex44-55 - DMD_054555 - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 - - Germline yes - - - - DNA PCR, PCRm, MLPA - - ? - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 grand son M no Argentina - >21y - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del?) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Basak 2006 - - Germline - - - - - DNA PCR - - DMD - PubMed: Basak 2006 analysis 70 BMD/DMD patients M - India - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 de novo, in patient PubMed: Carsana - - De novo - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.? Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del g.31,948,537_31,518,523del - DMD_054555 430.014 Kb deletion PubMed: Hegde 2008 - - Germline - - - - - DNA arrayCGH - - MD - PubMed: Hegde 2008 carrier female F - - - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.6439_8217del p.Glu2147_Gln2739del Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - Fajkusova, ICHG2001#P1073 - {DB:Brno} - - Germline - - - - - DNA, RNA RT-PCR, PTT - - BMD - Fajkusova, ICHG2001#P1073 - {DB:Brno} - M - Czech Republic - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(Glu2147_Gln2739del) Paternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Fujii 2009 - - Germline - - - - - DNA PCRq, MLPA - - BMD - PubMed: Fujii 2009 parents 2nd gedree cousins F - Japan - >14y - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(Glu2147_Gln2739del) Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Fujii 2009 - - Germline - - - - - DNA PCRq, MLPA - - BMD - PubMed: Fujii 2009 parents 2nd gedree cousins F - Japan - >14y - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(Glu2147_Gln2739del) Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Fujii 2009 - - Germline - - - - - DNA PCRq, MLPA - - Healthy/Control - PubMed: Fujii 2009 father of 19396825.d M - Japan - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(Glu2147_Gln2739del) Paternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Fujii 2009 - - Germline - - - - - DNA PCRq, MLPA - - Healthy/Control - PubMed: Fujii 2009 mother of 19396825.d F - Japan - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Sironi - - Germline - - - - - DNA Southern - - BMD - PubMed: Sironi - M - Italy - >60y - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 detected with BAC array PubMed: Cottrell 2010 - - Germline - - - - - DNA arrayCGH, PCR - - MD - PubMed: Cottrell 2010 carrier mother M - United States white >16m - - - 2 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - - - - Germline - - - - - DNA Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del?) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - DMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(ex45ex55del) p.(?) Parent #1 - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - MD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.? p.? Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 no sequence exons 45-55 suggests a deletion in the gene PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex44-55 - DMD_054555 - PubMed: Hiraide 2019 - - Germline - - - - - DNA SEQ - - BMD, RMD2 FamPatIII3 PubMed: Hiraide 2019 3-generation family, 3 affecteds mixed phenotype, carrier BMD mother M - Japan - - - - - 4 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - - - - Germline - - - - - DNA SEQ - - RMD2 FamPatIII1 PubMed: Hiraide 2019 sister, carrier BMD F - Japan - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.6439_8217del p.Glu2147_Gln2739del Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Nakamura 2017, PubMed: Nicolas 2012 - - Germline/De novo (untested) - - - - - DNA, RNA PCRm, RT-PCR, SEQ - - BMD/DMD Pat5 PubMed: Nakamura 2017, PubMed: Nicolas 2012 - M - Japan - - - - angiotensin-converting enzyme inhibitor 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.? p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Nakamura 2017, PubMed: Nicolas 2012, PubMed: Tasaki 2001 - - Germline/De novo (untested) - - - - - DNA PCRm, Southern - - BMD/DMD Pat6 PubMed: Nakamura 2017, PubMed: Nicolas 2012, PubMed: Tasaki 2001 - M - Japan - - - - angiotensin-converting enzyme inhibitor 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.? p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Nakamura 2017, PubMed: Nicolas 2012, PubMed: Yasaki 1999 - - Germline/De novo (untested) - - - - - DNA PCRm, Southern - - BMD/DMD Pat7 PubMed: Nakamura 2017, PubMed: Nicolas 2012, PubMed: Yasaki 1999 - M - Japan - - - - angiotensin-converting enzyme inhibitor, beta blocker 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD DG PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD DF PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD PF PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD SA PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD TA PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline - - - - - DNA MLPA - - BMD/DMD MC PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline - - - - - DNA MLPA - - BMD/DMD MM PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline - - - - - DNA MLPA - - BMD/DMD VF PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex45-55 - DMD_054555 - PubMed: Taglia 2015 - - Germline - - - - - DNA MLPA - - BMD/DMD TR PubMed: Taglia 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(ex45ex55del) p.(?) Parent #1 - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(ex45ex55del) p.(?) Parent #1 - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(6439_8217del) p.(del) Unknown - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(ex45ex55del) p.(?) Parent #1 - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(ex45ex55del) p.(?) Parent #1 - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(ex45ex55del) p.(?) Parent #1 - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del r.(ex45ex55del) p.(?) Parent #1 - pathogenic (recessive) g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del - - DMD_054555 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
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