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.

64 entries on 1 page. Showing entries 1 - 64.
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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     
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Tuffery-Giraud 2009, UMD 1957 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1957 database - M - France - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Tuffery-Giraud 2009, UMD 2452 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2452 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Tuffery-Giraud 2009, UMD 57 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 57 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 58 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 58 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 186 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 186 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Tuffery-Giraud 2009, UMD 59 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 59 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Tuffery-Giraud 2009, UMD 187 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 187 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Tuffery-Giraud 2009, UMD 3013 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3013 database - M - France - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Tuffery-Giraud 2009, UMD 3028 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3028 database - M - France - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(e10-e11del) p.del Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del e10-e11; c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 carrier sister PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 de novo, in patient - - - De novo - - - - - DNA MLPA - - EDMD - - - M - Albania - - - - - 1 Christofer Konialis
+/. 9i_11i c.(858_987)_(1174_1384)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del ex10ex11del; c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11; c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 9i_11i c.(858_987)_(1174_1384)del r.(del) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Marquis-Nicholson 2013 - - Germline/De novo (untested) - - - - - DNA MLPA, Southern - - DMD 23476807-Pat6 PubMed: Marquis-Nicholson 2013 - M - New Zealand - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11; c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - 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
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11; c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D180 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11; c.(960+1_961-1)_(1331+1_1332-1)del - DMD_011011 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D581 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11, c.(960+1_961-1)_(1331+1_1332+1)del - DMD_011011 - PubMed: Spitali 2019, Journal: Spitali 2019 - - Germline/De novo (untested) - - - - - DNA ? - - - - PubMed: Spitali 2019, Journal: Spitali 2019 - M - - - - - - - 1 Irina Zaharieva
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD MDCRC/1400/DBI-1171 - - M no India India - - - - 1 Lakshmi Bremadesam
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del ex10ex11del, c.961-?_1331+?del - DMD_011011 - 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
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Luce 2016, Journal: Luce 2016 - - Germline - - - - - DNA MLPA - - BMD/DMD #94 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Luce 2016, Journal: Luce 2016, PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #153 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Luce 2016, Journal: Luce 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #221 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - 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
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6061 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat38 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 7/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Tian 2019 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD Pat17 PubMed: Tian 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - 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
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.fs Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del - - DMD_011011 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Romania - - - - - 1 Alessandra Ferlini
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 7/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 7/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 7/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 7/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 7/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 7/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.fs Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.fs Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 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
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 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
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(His321Phefs*3) Unknown ACMG pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10_11 - DMD_011011 - PubMed: Nagabushana 2021 - - De novo - - - - - DNA MAPH - - DMD F40 PubMed: Nagabushana 2021 - M - India India-NorthEast (Assamese) - - - - 1 Atchayaram Nalini
./. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 9i_11i c.(858_987)_(1174_1384)del r.(?) p.(Glu287Argfs*14) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del - - - DMD_011011 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #745 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Yun 2021 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat163 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - 3y-Xi ratio blood 81:19, muscle 75:25 DNA MLPA - - BMD/DMD Pat3 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat99 PubMed: Liu 2023 female, son with DMD F - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - 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
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Elhawary 2018 - - Germline/De novo (untested) - 1/45 cases - - - DNA MLPA - - BMD/DMD DS-23 PubMed: Elhawary 2018 analysis 45 unrelated male cases M - Saudi Arabia - - - - - 1 Nasser Attia Elhawary
+/. 9i_11i c.(858_987)_(1174_1384)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 1/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #94 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 9i_11i c.(858_987)_(1174_1384)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11 - DMD_011011 - PubMed: Ge 2024 - - Germline - - - - - DNA MLPA, SEQ-NG - - BMD/DMD 18C007192 PubMed: Ge 2024 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)del r.(961_1331del) p.(His321Phefs*3) Maternal (confirmed) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)del g.(32614401_32644289)_(32645126_32697972)del del ex10-11, c.(858_987)_(1174_1384)del - DMD_011011 - Journal: Orozco 2025 - - Germline - - - - - DNA MLPA peripheral blood - BMD/DMD 411347 Journal: Orozco 2025 - M no Guatemala America-C;maya - - - - 1 Marcela Elizabeth Orozco Orozco
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