Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h(来自ICD-11)
别称:
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency
Limb-Girdle Muscular Dystrophy Type 2h
Sarcotubular Myopathy
Lgmd2h
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Muscular Dystrophy Hutterite Type
Lgmd Due to Trim32 Deficiency
Trim32-Related Lgmd R8
Lgmd Type 2h
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h, also known as limb-girdle muscular dystrophy due to trim32 deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 8 and bardet-biedl syndrome 11, and has symptoms including waddling gait, facial paresis and quadriceps muscle weakness. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Acute viral myocarditis. Affiliated tissues include skeletal muscle and skin, and related phenotypes are gait disturbance and myopathy
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MALACARDS
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Unknown
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26
180
11

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