Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a(来自ICD-11)
别称:
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency
Primary Calpainopathy
Lgmd2a
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Limb-Girdle Muscular Dystrophy Type 2a
Calpain-3-Related Lgmd R1
Lgmd Type 2a
Muscular Dystrophy, Limb-Girdle, Type 2a
Leyden-Moebius Muscular Dystrophy
Pelvofemoral Muscular Dystrophy
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a, also known as limb-girdle muscular dystrophy due to calpain deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and cardiomyopathy, familial hypertrophic, 1. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a is CAPN3 (Calpain 3), and among its related pathways/superpathways are Cardiac conduction and Extracellular matrix organization. Affiliated tissues include heart and skeletal muscle, and related phenotypes are generalized muscle weakness and hyperlordosis
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参考文献
MALACARDS
--
Unknown
1-9/100000
35
292
178

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