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Absent muscle fiber calpain-3

MedGen UID:: 868233
•Concept ID:: C4022625
•: Finding

Synonym:	Absent muscle fibre calpain-3

HPO:	HP:0030120

Definition

Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Absent muscle fiber calpain-3

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 calpain-3
        Absent muscle fiber calpain-3

Recent clinical studies

Diagnosis

Calpainopathy: how broad is the spectrum of clinical variability?

Starling A, de Paula F, Silva H, Vainzof M, Zatz M
J Mol Neurosci 2003;21(3):233-6. doi: 10.1385/jmn:21:3:233. PMID: 14645990

Clinical prediction guides

Telethonin protein expression in neuromuscular disorders.

Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M
Biochim Biophys Acta 2002 Oct 9;1588(1):33-40. doi: 10.1016/s0925-4439(02)00113-8. PMID: 12379311

Supplemental Content

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Clinical resources

ClinicalTrials.gov

Consumer resources

MedlinePlus

Reviews

Related information

ClinVar
Related medical variations
PubMed
Related literature resources in PubMed

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