Congenital Myopathy

Alias:
Benign Congenital Myopathy
Myopathy, Congenital
Myotonia Congenita
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
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
Related ID:
ICD11:1185572073

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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8
84
3

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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