Myosclerosis, Autosomal Recessive (MYOSAR)

Alias:

Myosclerosis

Myosclerosis, Congenital

Congenital Myosclerosis, Lowenthal Type

Myosclerosis, Congenital, of Lowenthal

Congenital Myosclerosis of Lowenthal

Myosclerosis Autosomal Recessive

Myopathy, Myosclerotic

Myosclerotic Myopathy

Myosar

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myosclerosis, Autosomal Recessive, also known as myosclerosis, is related to systemic scleroderma and collagen vi-related dystrophies, and has symptoms including facial paresis An important gene associated with Myosclerosis, Autosomal Recessive is COL6A2 (Collagen Type VI Alpha 2 Chain). Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and achilles tendon contracture

Related ID：

MALACARDS：MYS016

OMIM：255600

MESH：D003095