Congenital Myopathy 17 (CMYP17)

Alias:

Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies

Myopathy, Congenital, Due to Myod1 Deficiency

Myodrif

Cmyp17

Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facie

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Myopathy 17, is also known as myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies. An important gene associated with Congenital Myopathy 17 is MYOD1 (Myogenic Differentiation 1). Affiliated tissues include lung and kidney, and related phenotypes are ptosis and high palate

Related ID：

MALACARDS：CNG656

OMIM：618975

MESH：D009135