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.

79 entries on 1 page. Showing entries 1 - 79.
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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     
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Tuffery-Giraud 2009, UMD 213 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 213 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 71 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 71 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Tuffery-Giraud 2009, UMD 752 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 752 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2755 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2755 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Tuffery-Giraud 2009, UMD 3042 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 3042 database - M - France - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Tuffery-Giraud 2009, UMD 2191 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2191 database - M - France - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 manifesting female F - (Germany) - - - - - 1 Bart Janssen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Flanigan 2009 - - Germline - - - - - DNA MLPA, PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.(6118_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat100 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D245 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D492 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D575 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D735 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43; c.(6117+1_6118-1)_(6290+1_6291-1)del - DMD_014343 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D759 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del ex43del, c.6118-?_6290+?del - DMD_014343 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del ex43del, c.6118-?_6290+?del - DMD_014343 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0686 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD3514 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0193 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Mah 2011 - - Germline/De novo (untested) - 4/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Zhao 2018 - - Germline/De novo (untested) - 1/121 patients - - - DNA MLPA - - BMD/DMD - PubMed: Zhao 2018 analysis 121 unrelated male probands M - China - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Mah 2011 - - Germline/De novo (untested) - 4/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Mah 2011 - - Germline/De novo (untested) - 4/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Mah 2011 - - Germline/De novo (untested) - 4/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43-43 - DMD_014343 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43-43 - DMD_014343 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43-43 - DMD_014343 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.fs Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.fs Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.fs Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.fs Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del ex43 del - DMD_014343 - PubMed: Han 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - hCK Case2 PubMed: Han 2020 2-generation family, 1 affected and heterozygous carrier mother F - China - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
./. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD Pat116 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del - - DMD_014343 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43, 6118-?_6290+?del - DMD_014343 - PubMed: Tyagi 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat36 PubMed: Tyagi 2019 - M - India - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 3/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 3/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 3/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat12 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #879 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
+?/. 42i_43i c.(5951_6195)_(6195_6381)del r.(del) p.(Asp2740GlufsTer7) Maternal (inferred) - likely pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Ayala-Ramirez 2025 - - Germline - - - - - DNA MLPA - gene panel MYOP Pat154 PubMed: Ayala-Ramirez 2025 patient M - Colombia - - - - - 1 Johan den Dunnen
+/. 42i_43i c.(5951_6195)_(6195_6381)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32235090_32305741)_(32305741_32328365)del g.(32216973_32287624)_(32287624_32310248)del del ex43 - DMD_014343 - PubMed: Zinchenko 2025 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat4.1 PubMed: Zinchenko 2025 2-generation family, patient, affected uncle M - Russia Ossetia - - - prednisone 2 Johan den Dunnen
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