Congenital Myopathy 10a, Severe Variant (CMYP10A)

Alias:

Emardd

Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome

Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset

Cmyp10a

Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia

Congenital Myopathy 10a

Megf10-Related Myopathy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Myopathy 10a, Severe Variant, also known as emardd, is related to congenital myopathy 10b, mild variant and congenital myopathy, and has symptoms including torticollis and facial paresis. An important gene associated with Congenital Myopathy 10a, Severe Variant is MEGF10 (Multiple EGF Like Domains 10). Affiliated tissues include skeletal muscle and lung, and related phenotypes are dysphagia and hypotonia

Related ID：

MALACARDS：CNG649

OMIM：614399

MESH：D009135