KEGG DISEASE: Sarcoplasmic body myopathy

DISEASE: Sarcoplasmic body myopathy

エントリ

H02805

名称

Sarcoplasmic body myopathy

概要

Sarcoplasmic body myopathy (MYOSB) is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure. Muscle pathology features include characteristic sarcoplasmic bodies in skeletal and cardiac muscles. It has been reported that mutations in MB cause this disease. Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species.

カテゴリ

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
    8C72  先天性ミオパチー
     H02805  Sarcoplasmic body myopathy

病因遺伝子

MB [HSA:4151] [KO:K21892]

リンク

ICD-11:

8C72

OMIM:

620286

文献

PMID:16146490

著者

Engvall M, Ahlberg G, Hedberg B, Edstrom L, Ansved T

タイトル

Sarcoplasmic body myopathy--a rare hereditary myopathy with characteristic inclusions.

雑誌

Acta Neurol Scand 112:223-7 (2005)
DOI:10.1111/j.1600-0404.2005.00475.x

文献

PMID:35527200

著者

Hama Y, Mori-Yoshimura M, Aizawa K, Oya Y, Nakamura H, Inoue M, Iida A, Sato N, Nonaka I, Nishino I, Takahashi Y

タイトル

Myoglobinopathy affecting facial and oropharyngeal muscles.

雑誌

Neuromuscul Disord 32:516-520 (2022)
DOI:10.1016/j.nmd.2022.02.010

文献

PMID:30918256

著者

Olive M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edstrom L, Wedell A, Laing NG

タイトル

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

雑誌

Nat Commun 10:1396 (2019)
DOI:10.1038/s41467-019-09111-2

LinkDB

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