Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures (MRRSDC)

Alias:

Lgmd2y

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 2y

Mrrsdc

Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency

Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures

Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine

Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency

Tor1aip1-Related Limb-Girdle Muscular Dystrophy

Dystrophy, Muscular, Limb-Girdle, Type Y

Limb-Girdle Muscular Dystrophy 2y

Tor1aip1-Related Lgmd

Lgmd Type 2y

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures, also known as lgmd2y, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and limb-girdle muscular dystrophy. An important gene associated with Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures is TOR1AIP1 (Torsin 1A Interacting Protein 1). Affiliated tissues include skeletal muscle, and related phenotypes are muscle weakness and increased variability in muscle fiber diameter

Related ID：

MALACARDS：MYP152

OMIM：617072

MESH：D049288