Myotubular Myopathy with Abnormal Genital Development

Alias:

X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome

Xq28 Contiguous Gene Deletion Syndrome

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Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myotubular Myopathy with Abnormal Genital Development, also known as x-linked myotubular myopathy-abnormal genitalia syndrome, is related to myopathy and myopathy, centronuclear, x-linked. An important gene associated with Myotubular Myopathy with Abnormal Genital Development is MAMLD1 (Mastermind Like Domain Containing 1). Affiliated tissues include skeletal muscle, and related phenotypes are generalized hypotonia and respiratory insufficiency

Related ID：

MALACARDS：MYT025

OMIM：300219