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Hypertrophied muscle fibers

MedGen UID:
451038
Concept ID:
C0333759
Finding; Finding
Synonyms: Muscle fiber hypertrophy; Muscle fibre hypertrophy
SNOMED CT: Muscle fiber hypertrophy (42091004)
 
HPO: HP:0100293

Definition

The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypertrophied muscle fibers

Conditions with this feature

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
MedGen UID:
463248
Concept ID:
C3151898
Disease or Syndrome
Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010). See also transient infantile liver failure (LFIT; 613070), which is a similar disorder.

Professional guidelines

PubMed

Dungan CM, Figueiredo VC, Wen Y, VonLehmden GL, Zdunek CJ, Thomas NT, Mobley CB, Murach KA, Brightwell CR, Long DE, Fry CS, Kern PA, McCarthy JJ, Peterson CA
Geroscience 2022 Aug;44(4):1925-1940. Epub 2022 Mar 24 doi: 10.1007/s11357-022-00542-2. PMID: 35325353Free PMC Article
Kapoor H, Gupta E, Sood A
Minerva Urol Nefrol 2014 Jun;66(2):127-37. PMID: 24988204
Clarkson PM, Kaufman SA
Med Hypotheses 2010 Aug;75(2):192-5. Epub 2010 Mar 9 doi: 10.1016/j.mehy.2010.02.020. PMID: 20219289

Recent clinical studies

Etiology

Bataineh ZA, Novotny NM
J Laparoendosc Adv Surg Tech A 2018 Feb;28(2):235-236. Epub 2017 Dec 13 doi: 10.1089/lap.2017.0555. PMID: 29236590

Therapy

Barkhaus PE, Periquet MI, Nandedkar SD
Muscle Nerve 1999 Apr;22(4):480-7. doi: 10.1002/(sici)1097-4598(199904)22:4<480::aid-mus9>3.0.co;2-a. PMID: 10204783

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