Congenital Myopathy 6 with Ophthalmoplegia (CMYP6)

Alias:

Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles

Childhood-Onset Autosomal Recessive Myopathy with External Ophthalmoplegia

Inclusion Body Myopathy 3, Autosomal Dominant

Myopathy, Proximal, with Ophthalmoplegia

Myopathy, Proximal, and Ophthalmoplegia

Cmyp6

Mypop

Inclusion Body Myopathy 3, Autosomal Dominant, Formerly

Myopathy, Congenital, Type 6, with Ophthalmoplegia

Inclusion Body Myopathy, Autosomal Dominant

Proximal Myopathy and Ophthalmoplegia

Inclusion Body Myopathy 3

Ibm3, Formerly

Ibm3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Myopathy 6 with Ophthalmoplegia, also known as myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, is related to hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome and congenital myopathy 6, and has symptoms including ophthalmoplegia and generalized muscle weakness. An important gene associated with Congenital Myopathy 6 with Ophthalmoplegia is MYH2 (Myosin Heavy Chain 2). Affiliated tissues include eye and whole blood, and related phenotypes are scapular winging and distal muscle weakness

Related ID：

MALACARDS：CNG644

OMIM：605637

MESH：D003286