Myopathy, Myofibrillar, 4 (MFM4)

Myopathy, Myofibrillar, 4(来自ICD-11)
别称:
Myofibrillar Myopathy 4
Markesbery-Griggs Distal Myopathy
Mfm4
Myopathy, Myofibrillar, Type 4, Zasp-Related
Distal Myopathy Markesbery-Griggs Type
Myopathy, Myofibrillar, Zasp-Related
Zaspopathy
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Basic Information
Medical Symptom
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References Literature
Myopathy, Myofibrillar, 4, also known as myofibrillar myopathy 4, is related to late-onset distal myopathy, markesbery-griggs type and miyoshi muscular dystrophy. An important gene associated with Myopathy, Myofibrillar, 4 is LDB3 (LIM Domain Binding 3), and among its related pathways/superpathways are Striated muscle contraction pathway and Cardiomyocyte signaling pathways converging on Titin. Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and emg: myopathic abnormalities
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