Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 (LGMDR10)

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10(来自ICD-11)
别称:
Muscular Dystrophy, Limb-Girdle, Type 2j
Lgmd2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Lgmdr10
Titin-Related Limb-Girdle Muscular Dystrophy R10
Dystrophy, Muscular, Limb-Girdle, Type 2j
Limb-Girdle Muscular Dystrophy Type 2j
Limb-Girdle Muscular Dystrophy 2j
Titin-Related Lgmd R10
Lgmd Type 2j
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10, also known as muscular dystrophy, limb-girdle, type 2j, is related to tibial muscular dystrophy, tardive and tibial muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 is TTN (Titin). Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and proximal muscle weakness
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参考文献
MALACARDS
AR
Child
<1/1000000
1
22
147

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