KEGG DISEASE: Rippling muscle disease

DISEASE: Rippling muscle disease

エントリ

H02179

名称

Rippling muscle disease

概要

Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Many cases of RMD are caused by mutations in caveolin-3, and aberrations in the tubular system are commonly observed.

カテゴリ

神経系疾患; 筋骨格疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
08 神経系の疾患
  神経筋接合部または筋の疾患
   原発性筋疾患
    8C71  筋強直性疾患
     H02179  Rippling muscle disease

パスウェイ

hsa04144

Endocytosis

hsa04510

Focal adhesion

病因遺伝子

CAV3 [HSA:859] [KO:K12959]

リンク

ICD-11:

8C71.Y

MeSH:

C535686

OMIM:

606072

文献

PMID:15742369

著者

Lamb GD

タイトル

Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers.

雑誌

Muscle Nerve 31:652-8 (2005)
DOI:10.1002/mus.20307

文献

PMID:11431690

著者

Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C

タイトル

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

雑誌

Nat Genet 28:218-9 (2001)
DOI:10.1038/90050

文献

PMID:19584897

著者

Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C

タイトル

Caveolinopathies: from the biology of caveolin-3 to human diseases.

雑誌

Eur J Hum Genet 18:137-45 (2010)
DOI:10.1038/ejhg.2009.103

LinkDB

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