Coriell Institute
Duchenne and Becker Muscular Dystrophy Collection

Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are X-linked recessive disorders (OMIM # 310200 and 300376) caused by mutations in the dystrophin (DMD) gene (OMIM # 300377). DMD and BMD both involve primarily the skeletal muscle but DMD presents in early childhood and is rapidly progressive whereas BMD has a later onset and longer life expectancy. Both DMD and BMD can result from deletions, duplications, or point mutations in the DMD gene. Sixty-five percent of males with DMD will have a deletion of one or more exons in the DMD gene whereas eighty-five percent of males with BMD will have such a deletion.

The collection of DMD and BMD samples at Coriell includes a number of samples with deletions in one or more exons and these are detailed in the table below.

Repository Holdings of Duchenne and Becker Muscular Dystrophy Samples with Gene Deletions
Repository Reference # Diagnosis (DMD/BMD) Affected (Y/N) Gender (M/F) Exons Deleted
Fibroblast Lymphoblast  
GM02339 na DMD Y M At least exon 43
GM03429 na DMD Y M 45 to 50
GM03604 na DMD Y M At least exon 19
GM03781 GM03780 DMD Y M 2 or 3 to at least 17, exon 19 not deleted
GM03783 GM03782 DMD Y M 2 or 3 to at least 17, exon 19 not deleted
GM05162 GM03929 DMD Y M 46 to 50
na GM04100 DMD Y M 49 to 52
GM04981 na BMD Y M 45 to at least 52, exon 60 not deleted
GM05017 GM05016 DMD Y M 45 to 50
GM05089 GM05090 BMD Y M 4 to 43
GM05112 GM05113 DMD Y M 45
GM05114 GM05115 DMD Y M 45
GM05158 GM05159 DMD N F 46 to 50
GM05169 GM05170 DMD Y M 3 to 5
na GM07691 DMD Y M Starts outside 5" end and extends at least to exon 17, exon 19 not deleted
na GM07692 DMD N F Starts outside 5" end and extends at least to exon 17, exon 19 not deleted
na GM07947 DMD Y M Starts outside 5" end through at least exon 19, exon 44 is not deleted

Our collection of DMD and BMD cell lines comprises samples from fifty-one individuals, thirty-five of whom are affected. A subset of the Coriell collection of DMD and BMD cell lines includes samples in which detailed clinical information is available. The clinical information is available for download in an  Excel spreadsheet . Of this group, there are a total of nineteen affected males with DMD, four affected males with BMD, and four affected females with DMD. This subset also includes samples from twelve unaffected first-degree relatives of the affected individuals. >From this collection, twenty-two samples were analyzed for a deletion in the DMD gene using multiplex PCR. Eleven of the samples from males with DMD were found to have deletions in the DMD gene, while two samples from males with BMD were found to have a deletion. No DMD gene deletions were found in two of the samples from males with DMD, in one of the samples from a male with BMD, and in three of the females with DMD.

Please see the on-line catalog to view our complete holdings of DMD and BMD cell lines.

Our mission is to prevent and cure disease through biomedical research.

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