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產品名稱：Coriell人類基因組DNA標準品(GM04364)現貨供應

產品貨號：GM04364

產品品牌：Coriell

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:Yes

Sex:Male

Age:13 YR (At Sampling)

Overview：

Repository:NIGMS Human Genetic Cell Repository

Subcollection:Heritable Diseases  Muscular Dystrophies  GeT-RM Samples dbGaP

Class:Congenital Muscle Diseases

Biopsy Source:Unspecified

Cell Type:Fibroblast

Tissue Type:Skin

Transformant:Untransformed

Sample Source:Fibroblast from Skin, Unspecified

Race:White

Family Member:1

Relation to Proband:proband

Confirmation:Clinical summary/Case history

Species:Homo sapiens

Common Name:Human

Remarks:Clinically affected with Duchenne muscular dystrophy; diagnosed sometime before age 10; calf hypertrophy; Gower's maneuver; ambulatory at age 10; muscle testing at age 10 showed most muscles to be in fair to poor range but good muscle power demonstrated in hamstrings, posterior and anterior tibs and upper trapezius; at age 10 there were tight heelcords, tightness of the hip flexors, hamstrings and knees; son of GM04363; elevated CPK; muscle biopsy showed classical histological findings of Duchenne muscular dystrophy; donor subject shows a deletion of exons 51-55 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis.

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