Bethlem Myopathy 1 (BTHLM1)

Alias:

Bethlem Myopathy

Myopathy, Benign Congenital, with Contractures

Benign Autosomal Dominant Myopathy

Bthlm1

Lgmdd5

Muscular Dystrophy, Benign Congenital Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Muscular Dystrophy, Benign Congenital

Benign Congenital Muscular Dystrophy

Myopathy, Bethlem, Type 1

Myopathy, Bethlem

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Bethlem Myopathy 1, also known as bethlem myopathy, is related to collagen vi-related dystrophies and ullrich congenital muscular dystrophy 1. An important gene associated with Bethlem Myopathy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skeletal muscle and skin, and related phenotypes are muscle weakness and flexion contracture

Related ID：

MALACARDS：BTH005

OMIM：158810

MESH：C535436