Myopathy, Centronuclear, 2 (CNM2)

Alias:

Autosomal Recessive Centronuclear Myopathy

Myopathy, Centronuclear, Autosomal Recessive

Centronuclear Myopathy 2

Ar-Cnm

Cnm2

Centronuclear Myopathy Autosomal Recessive

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Myopathy, Centronuclear, Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myopathy, Centronuclear, 2, also known as autosomal recessive centronuclear myopathy, is related to myopathy, centronuclear, 5 and centronuclear myopathy, and has symptoms including ophthalmoplegia, waddling gait and facial paresis. An important gene associated with Myopathy, Centronuclear, 2 is BIN1 (Bridging Integrator 1), and among its related pathways/superpathways is Clathrin-mediated endocytosis. Affiliated tissues include skeletal muscle and heart, and related phenotypes are facial palsy and high palate

Related ID：

MALACARDS：MYP131

OMIM：255200

MESH：C562934