Myopathy, Myofibrillar, 6 (MFM6)

Myopathy, Myofibrillar, 6(来自ICD-11)
别称:
Myofibrillar Myopathy 6
Myopathy, Myofibrillar, Bag3-Related
Mfm6
Myopathy, Myofibrillar, Type 6, Bag3-Related
Bag3-Related Myofibrillar Myopathy
Myopathy Myofibrillar Bag3-Related
Muscular Dystrophy, Selcen Type
Muscular Dystrophy Selcen Type
Mfm Bag3-Related
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Myopathy, Myofibrillar, 6, also known as myofibrillar myopathy 6, is related to cardiomyopathy, dilated, 1hh and myofibrillar myopathy, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BAG Cochaperone 3), and among its related pathways/superpathways are Cellular response to heat stress and HSF1-dependent transactivation. Affiliated tissues include skeletal muscle and heart, and related phenotypes are respiratory insufficiency and elevated circulating creatine kinase concentration
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MALACARDS
AD
Child
<1/1000000
11
71
36

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