Reduced muscle telethonin level

MedGen UID:: 1841823
•Concept ID:: C5826585
•: Finding

Synonym:	Muscle biopsy: telethonin low or absent

HPO:	HP:0034683

Definition

Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced muscle telethonin level

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal muscle fiber morphology
        Abnormal muscle fiber protein expression
        Reduced muscle telethonin level

Recent clinical studies

Clinical prediction guides

Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy.

Schröder R, Reimann J, Iakovenko A, Mues A, Bönnemann CG, Matten J, Gautel M
J Muscle Res Cell Motil 2001;22(3):259-64. doi: 10.1023/a:1012242011109. PMID: 11763198

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Reduced muscle telethonin level

Definition

Term Hierarchy

Recent clinical studies

Clinical prediction guides

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