Ullrich Congenital Muscular Dystrophy 1 (UCMD1)

Alias:

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Scleroatonic Muscular Dystrophy

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Congenital Muscular Dystrophy, Ullrich Type

Lgmdr22

Ucmd1

Dystrophy, Muscular, Congenital, Ullrich, Type 1

Dystrophy, Muscular, Congenital, Ullrich

Muscular Dystrophy, Scleroatonic

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ullrich Congenital Muscular Dystrophy 1, also known as ullrich congenital muscular dystrophy, is related to collagen vi-related dystrophies and muscular dystrophy, congenital, lmna-related, and has symptoms including torticollis An important gene associated with Ullrich Congenital Muscular Dystrophy 1 is COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include skeletal muscle and lung, and related phenotypes are kyphosis and flexion contracture

Related ID：

MALACARDS：ULL002

OMIM：254090

MESH：D009136