KEGG DISEASE: Native American myopathy

KEGG

DISEASE: Native American myopathy

Entry

H02084                      Disease

Name

Native American myopathy

Supergrp

Congenital myopathy [DS:H01810]

Description

Native American myopathy (NAM) is autosomal recessive myopathy that was first reported in the Lumbee Indians of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM.

Category

Nervous system disease; Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C72  Congenital myopathies
     H02084  Native American myopathy

Gene

STAC3 [HSA:246329] [KO:K23713]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY

Title

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

Journal

Nat Commun 4:1952 (2013)
DOI:10.1038/ncomms2952

Reference

Authors

Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM

Title

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

Journal

Am J Med Genet A 146A:1832-41 (2008)
DOI:10.1002/ajmg.a.32370

LinkDB

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