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.

68 entries on 1 page. Showing entries 1 - 68.
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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     
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Tuffery-Giraud 2009, UMD 1929 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1929 database - M - France - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Tuffery-Giraud 2009, UMD 356 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 356 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Tuffery-Giraud 2009, UMD 357 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 357 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Tuffery-Giraud 2009, UMD 358 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 358 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Tuffery-Giraud 2009, UMD 2669 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2669 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Tuffery-Giraud 2009, UMD 1907 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1907 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del chrX.hg18:g.31,580,658_31,640,215del; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 deletion 60Kb PubMed: Lim 2011 - - Germline - - - - - DNA SEQ-NG-I, MLPA - - DMD - PubMed: Lim 2011 - M - Korea - >14y - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*?) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 patient and 2 carriers M - Bulgaria - - - - - 3 Bilyana Georgieva
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(7661_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat88 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat89 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat90 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat91 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat92 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Polavarapu 2019 - - Germline yes - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, family, several affected M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D594 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del ex53ex54 del, c.7661-?_8027+?del - DMD_015354 - 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del ex53ex54del, c.7544-?_8027+?del - DMD_015354 - 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD10563 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD3475 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del - - Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del c.[(6382_6538)_(7309+14_7423)del;(7629_7787)_(7909_8069)del] - DMD_015354 non-contiguous del ex45-50 and del ex53-54 - - - Germline - - - - - DNA MLPA - - DMD MDCRC/0282/B-332 - - M no India India - - Yes - 1 Lakshmi Bremadesam
+/. 52i_54i c.(7628_7786)_(7908_8068)del - - Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del - - DMD_015354 non contiguous deletion of exons 45-50 and exons 53-54 - - - Germline - - - - - DNA MLPA Nil - DMD MDCRC/0103/B-110 - Two nephews affected M no India Indian 18y - yes - 2 Lakshmi Bremadesam
+/. 52i_54i c.(7628_7786)_(7908_8068)del - - Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del - - DMD_015354 non contiguous deletion of exons 45-50 and exons 53-54 - - - Germline - - - - - DNA MLPA Nil - DMD MDCRC/0103/DBI-4100 - Maternal uncle and Elder brother affected M no India Indian - - yes - 3 Lakshmi Bremadesam
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Toksoy 2019 - - Germline/De novo (untested) - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0216 PubMed: Toksoy 2019 singleton patient, no family history M - Turkey - - - - - 1 Güven Toksoy
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1517 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del - - Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex45-50 and 53-54 - DMD_015354 non-contiguous del ex45-50 and 53-54 PubMed: Murugan 2010 - - Germline/De novo (untested) - 1/150 patients - - - - - - - - - - - - - - - - - - - - -
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del - - DMD_015354 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Algeria - - - - - 1 Alessandra Ferlini
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54; c.(7660+1_7661-1)_(8027+1_8028-1)del - DMD_015354 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 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
./. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(?) p.(Asn2543_Leu2690delinsLys) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del - - - DMD_015354 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #796 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del - - DMD_015354 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Iskandar 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD MHH PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Yamputchong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Yamputchong 2020 - M - Thailand - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54, 7661-?_8027+?del - DMD_015354 - PubMed: Tyagi 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat2 PubMed: Tyagi 2019 - M - India - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat78 PubMed: Liu 2023 female, son with DMD F - China - - - - - 1 Johan den Dunnen
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd5 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - 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
+/. 52i_54i c.(7628_7786)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31697578_31747780)del g.(31627822_31658109)_(31679461_31729663)del del ex53-54 - DMD_015354 - 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
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