Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 (LGMDD2)

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2(来自ICD-11)
别称:
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Muscular Dystrophy, Limb-Girdle, Type 1f
Lgmd1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2
Lgmdd2
Tnp03-Related Limb-Girdle Muscular Dystrophy D2
Dystrophy, Muscular, Limb-Girdle, Type 1f
Muscular Dystrophy Limb-Girdle Type 1f
Limb-Girdle Muscular Dystrophy Type 1f
Limb-Girdle Muscular Dystrophy 1f
Lgmd Type 1f
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2, also known as autosomal dominant limb-girdle muscular dystrophy type 1f, is related to myopathy, myofibrillar, 3 and autosomal dominant limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 is TNPO3 (Transportin 3), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Acute viral myocarditis. Affiliated tissues include skeletal muscle, and related phenotypes are pelvic girdle muscle weakness and shoulder girdle muscle weakness
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参考文献
MALACARDS
AD
Infant
<1/1000000
13
114
7

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MGI
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