Congenital Myopathy

Congenital Myopathy(来自ICD-11)
别称:
Benign Congenital Myopathy
Myopathy, Congenital
Myotonia Congenita
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Congenital Myopathy, also known as benign congenital myopathy, is related to congenital myopathy 13 and congenital myopathy 10a, severe variant. An important gene associated with Congenital Myopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and DREAM Repression and Dynorphin Expression. The drugs Lamotrigine and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and brain, and related phenotypes are myopathy and abnormality of the nervous system
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相关ID:
ICD11:1185572073

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MALACARDS
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Unknown
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8
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3

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