Muscular Dystrophy-Dystroglycanopathy , Type C, 9 (MDDGC9)

Muscular Dystrophy-Dystroglycanopathy , Type C, 9(来自ICD-11)
别称:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Lgmd2p
Mddgc9
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16
Lgmdr16
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9
Muscular Dystrophy-Dystroglycanopathy Type C9
Dystrophy, Muscular, Limb-Girdle, Type 2p
Muscular Dystrophy, Limb-Girdle, Type 2p
Limb-Girdle Muscular Dystrophy Type 2p
Muscular Dystrophy Limb-Girdle Type 2p
Alpha-Dystroglycan-Related Lgmd R16
Lgmd Type 2p
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Muscular Dystrophy-Dystroglycanopathy , Type C, 9, also known as autosomal recessive limb-girdle muscular dystrophy type 2p, is related to muscular dystrophy-dystroglycanopathy , type c, 1 and muscular dystrophy, limb-girdle, type 1h. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 9 is DAG1 (Dystroglycan 1), and among its related pathways/superpathways are Acute viral myocarditis and 13q12.12 copy number variation. Affiliated tissues include brain and skeletal muscle, and related phenotypes are elevated circulating creatine kinase concentration and limb-girdle muscular dystrophy
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MALACARDS
AR
Child
<1/1000000
8
32
10

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