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.

129 entries on 2 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     
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.? Unknown - pathogenic (recessive) g.(31697577_31728909)_(32130344_32235089)del - c.(6438+1_6439-1)_ 7660+1_7661-1) del - DMD_054552 - PubMed: Aravind 2019, PubMed: Shastry 2021 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD DMD4/FM17P17a(DMD4)/17b(DMD7) PubMed: Aravind 2019, PubMed: Shastry 2021 3-generation family, 2 affected brothers, carrier mother/sister M - India - - - - - 2 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.? Unknown - pathogenic (recessive) g.(31697577_31728909)_(32130344_32235089)del - c.(6438+1_6439-1)_ 7660+1_7661-1) del - DMD_054552 - PubMed: Aravind 2019, PubMed: Shastry 2021 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD DMD7 PubMed: Aravind 2019, PubMed: Shastry 2021 brother M - India - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Malapert 1995, UMD 3 database - - Germline - - - - - DNA Southern - - MD - PubMed: Malapert 1995, UMD 3 database symptomatic DMD carrier, onset infancy F - (France) - >25y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 variants derived from Fig., exact borders difficult to derive PubMed: Yuge 1999 - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Yuge 1999 analysis 138 BMD/DMD cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Herczegfalvi 1999 - - Germline - - - - - DNA PCR - - MD - PubMed: Herczegfalvi 1999 analysis 159 BMD/DMD cases M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Onengut - - Germline - - - - - DNA PCRm, Southern - - MD - PubMed: Onengut analysis 146 BMD/DMD deletion cases M - Turkey - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - DMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Florentin - - Germline - - - - - DNA PCRm - - DMD - PubMed: Florentin analysis 90 BMD/DMD cases M - Greece - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Florentin - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Florentin analysis 90 BMD/DMD cases M - Greece - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Banerjee - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Banerjee analysis 160 BMD/DMD families M - India - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Singh - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Singh analysis 121 BMD/DMD cases M - India North - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del ex45-52del - DMD_054552 del excl. Dp140 ex1 PubMed: Moizard 1998 - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Moizard 1998 - M - (France) - >10y10m - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del ex45-52del - DMD_054552 del excl. Dp140 ex1 PubMed: Moizard 1998 - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Moizard 1998 - M - (France) - >16y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - DMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.6439_7660del p.Glu2147Leufs*21 Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - Fajkusova, ICHG2001#P1073 - {DB:Brno} - - Germline - - - - - DNA, RNA RT-PCR, PTT - - DMD - Fajkusova, ICHG2001#P1073 - {DB:Brno} - M - Czech Republic - - - - - 2 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - DMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Sironi - - Germline - - - - - DNA Southern - - DMD - PubMed: Sironi - M - Italy - >4y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Mital - - - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - DMD - PubMed: Covone 1991 - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - DMD - PubMed: Covone 1991 - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - DMD - PubMed: Covone 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - DMD - PubMed: Covone 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - DMD - PubMed: Covone 1991 - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - contact curator - - Germline - - - - - DNA PCR - - DMD private email contact me for details - M - Qatar - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Mital - - - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 de novo, in patient - - - De novo - - - - - DNA PCR - - DMD - - - M - - - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Darras - - Germline - - - - - DNA Southern - - DMD - PubMed: Darras - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 mother germline mosaic; ex53 junction fragment PubMed: Darras - - Germline - - - - - DNA Southern - - DMD - PubMed: Darras two affected brothers - - United States - - - - - 2 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Gilgenkrantz - - Germline - - - - - DNA Southern - - DMD - PubMed: Gilgenkrantz analysis 45 deletion cases M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Mital - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Mital - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Kumari - - Germline - - - - - DNA PCRm, Southern - - - - PubMed: Kumari - M - India - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Mital - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Clausters 1991 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Clausters 1991 - M - France - - - - - 1 Mireille Claustres
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - Serbia Montenegro - - - - 2 Tanja Lalic
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - Bulgaria - - - - - 2 Albena Todorova
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - DMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*?) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm, MLPA - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm, Southern - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm, Southern - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm, Southern - - DMD - - - - - Brazil - - - - - 1 Mayana Zatz
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(ex45ex52del) p.(?) Parent #1 - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq - - MD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? Maternal (inferred) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - - - DNA PCRm - - DMD - PubMed: Bermudez-Lopez 2014 mother not carrier M - Mexico Mestizos - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? Maternal (confirmed) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - Germline yes - - - - DNA PCRm - - DMD - PubMed: Bermudez-Lopez 2014 carrier mother M - Mexico Mestizos - - - - 2 Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? Maternal (confirmed) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - Germline yes - - - - DNA PCRm - - DMD - PubMed: Bermudez-Lopez 2014 carrier mother, carrier sister M - Mexico Mestizos - - - - 3 Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? Maternal (inferred) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - - - DNA PCRm - - DMD - PubMed: Bermudez-Lopez 2014 mother not carrier M - Mexico Mestizos - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? Maternal (inferred) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - - - DNA PCRm - - DMD - PubMed: Bermudez-Lopez 2014 mother not carrier M - Mexico Mestizos - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - - - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.? Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR - - DMD F237 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52, c.6439-?_7660+?del - DMD_054552 - PubMed: Murugan 2010 - - Germline/De novo (untested) - 1/150 patients - - - DNA PCRm - - BMD/DMD - PubMed: Murugan 2010 analysis 150 unrelated DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Tran 2013 - - Germline/De novo (untested) - 2/152 patients - - - DNA, RNA PCRm, RT-PCR - - BMD/DMD Pats PubMed: Tran 2013 analysis 152 muscular dystrophy patients M - Viet Nam - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - - - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - - - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - - - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - - - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Florentin - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Florentin analysis 90 BMD/DMD cases M - Greece - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Banerjee - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Banerjee analysis 160 BMD/DMD families M - India - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - DMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Tran 2013 - - Germline/De novo (untested) - 2/152 patients - - - DNA, RNA PCRm, RT-PCR - - BMD/DMD Pats PubMed: Tran 2013 analysis 152 muscular dystrophy patients M - Viet Nam - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 variants derived from Fig., exact borders difficult to derive PubMed: Yuge 1999 - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Yuge 1999 analysis 138 BMD/DMD cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Gilgenkrantz - - Germline - - - - - DNA Southern - - DMD - PubMed: Gilgenkrantz analysis 45 deletion cases M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - - - DNA PCRm, Southern - - DMD - - - - - Brazil - - - - - 1 Mayana Zatz
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(ex45ex52del) p.(?) Parent #1 - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Herczegfalvi 1999 - - Germline - - - - - DNA PCR - - BMD/DMD - PubMed: Herczegfalvi 1999 analysis 159 BMD/DMD cases M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52, c.6439-?_7660+?del - DMD_054552 - PubMed: Murugan 2010 - - Germline/De novo (untested) - 1/150 patients - - - DNA PCRm - - BMD/DMD - PubMed: Murugan 2010 analysis 150 unrelated DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Onengut - - Germline - - - - - DNA PCRm, Southern - - BMD/DMD - PubMed: Onengut analysis 146 BMD/DMD deletion cases M - Turkey - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 variants derived from Fig., exact borders difficult to derive PubMed: Yuge 1999 - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Yuge 1999 analysis 138 BMD/DMD cases M - China - - - - - 1 Johan den Dunnen
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