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Abnormal mitochondria in muscle tissue

MedGen UID:
867188
Concept ID:
C4021546
Anatomical Abnormality
Synonym: Abnormal mitochondria in muscle
 
HPO: HP:0008316

Definition

An abnormality of the mitochondria in muscle tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal mitochondria in muscle tissue

Conditions with this feature

Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
MedGen UID:
340508
Concept ID:
C1850302
Disease or Syndrome
Mitochondrial complex II deficiency, nuclear type 1
MedGen UID:
1814582
Concept ID:
C5700310
Disease or Syndrome
Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013). Complex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain. Genetic Heterogeneity of Mitochondrial Complex II Deficiency See MC2DN2 (619166), caused by mutation in the SDHAF1 gene (612848) on chromosome 19q13; MC2DN3 (619167), caused by mutation in the SDHD gene (602690) on chromosome 11q23; and MC2DN4 (619224), caused by mutation in the SDHB gene (185470) on chromosome 1p36. Fullerton et al. (2020) reviewed the genetic basis of isolated mitochondrial complex II deficiency.

Professional guidelines

PubMed

Peng JF, Salami OM, Lei C, Ni D, Habimana O, Yi GH
J Drug Target 2022 Sep;30(8):833-844. Epub 2022 Jun 28 doi: 10.1080/1061186X.2022.2085728. PMID: 35652502
Georgiev A, Granata C, Roden M
Am J Physiol Cell Physiol 2022 Jun 1;322(6):C1248-C1259. Epub 2022 May 4 doi: 10.1152/ajpcell.00035.2022. PMID: 35508191
Thambisetty M, Newman NJ
Expert Rev Mol Diagn 2004 Sep;4(5):631-44. doi: 10.1586/14737159.4.5.631. PMID: 15347257

Recent clinical studies

Diagnosis

Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF
Cold Spring Harb Mol Case Stud 2019 Jun;5(3) Epub 2019 Jun 3 doi: 10.1101/mcs.a003673. PMID: 30850373Free PMC Article

Clinical prediction guides

Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF
Cold Spring Harb Mol Case Stud 2019 Jun;5(3) Epub 2019 Jun 3 doi: 10.1101/mcs.a003673. PMID: 30850373Free PMC Article

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