Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 (LGMDR18)

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18(来自ICD-11)
别称:
Lgmd2s
Muscular Dystrophy, Limb-Girdle, Type 2s
Lgmdr18
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 18
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type R18
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-Girdle Muscular Dystrophy Type 2s
Limb-Girdle Muscular Dystrophy 2s
Trappc11-Related Lgmd R18
Lgmd Type 2s
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18, also known as lgmd2s, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy, limb-girdle, autosomal recessive 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 is TRAPPC11 (Trafficking Protein Particle Complex Subunit 11). Affiliated tissues include skeletal muscle and liver, and related phenotypes are hyperlordosis and cataract
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参考文献
MALACARDS
AR
Infant
<1/1000000
1
3
12

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