产品名称：Coriell人类基因组DNA标准品(GM05114)现货供应

产品货号：GM05114

产品品牌：Coriell

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:Yes

Sex:Male

Age:22 YR (At Sampling)

Overview：

l Repository：NIGMS Human Genetic Cell Repository

l Subcollection：Heritable Diseases  Muscular Dystrophies

l Class：Congenital Muscle Diseases

l Biopsy Source：Unspecified

l Cell Type： Fibroblast

l Tissue Type：Skin

l Transformant：Untransformed

l Sample Source：Fibroblast from Skin, Unspecified

l Race：White

l Family Member：2

l Relation to Proband：brother

l Confirmation：Clinical summary/Case history

l Species：Homo sapiens

l Common Name：Human

l Remarks：Clinically affected with Duchenne muscular dystrophy; diagnosed at age 10; calf hypertrophy; progressive muscle weakness; toe walking, difficulty with stairs and frequent falls noted at age 4; wheelchair bound by age 10; by age 15 there was mild scoliosis, lumbar lordosis, contractures of the elbows, ankles, hips and knees, marked weakness in upper extremities, tight heelcords; by age 20 there was inability to flex hips against gravity, inability to raise hands above head; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; affected brother is GM05112/13; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK; same donor as GM05115 (lymphocyte).

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