Abnormal muscle fiber valosin-containing protein

MedGen UID:: 868178
•Concept ID:: C4022570
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre valosin-containing protein

HPO:	HP:0030228

Definition

A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber valosin-containing protein

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal muscle fiber morphology
        Abnormal muscle fiber protein expression
        Abnormal muscle fiber valosin-containing protein
        Accumulation of muscle fiber valosin-containing protein

Recent clinical studies

Etiology

Hereditary inclusion-body myopathies.

Broccolini A, Mirabella M
Biochim Biophys Acta 2015 Apr;1852(4):644-50. Epub 2014 Aug 19 doi: 10.1016/j.bbadis.2014.08.007. PMID: 25149037

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.

Cai H, Yabe I, Sato K, Kano T, Nakamura M, Hozen H, Sasaki H
J Neurol 2012 Sep;259(9):1913-22. Epub 2012 Feb 17 doi: 10.1007/s00415-012-6439-0. PMID: 22349865

See all (2)

Diagnosis

Characterization of the Asian myopathy patients with VCP mutations.

Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I
Eur J Neurol 2012 Mar;19(3):501-9. Epub 2011 Oct 31 doi: 10.1111/j.1468-1331.2011.03575.x. PMID: 22040362

See all (1)

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Abnormal muscle fiber valosin-containing protein

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

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Clinical resources

Consumer resources

Reviews

Recent activity