Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency

Description

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 ), which is a similar disorder.

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties
  • Motor delay
  • Hepatomegaly
  • Respiratory insufficiency
  • Respiratory distress

And another 30 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency Is also known as mitochondrial myopathy with reversible complex iv deficiency, mitochondrial myopathy with reversible cox deficiency, cox deficiency myopathy, infantile, transient, benign cox deficiency, mitochondrial myopathy, infantile, transient, due to respiratory chain d.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
TRMU Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TRMU
Specificity
100 %
Genes
50 %
TRMU Sequence Analys.

By Baylor Miraca Genetics Laboratories (United States).

TRMU
Specificity
100 %
Genes
50 %
TRMU Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TRMU
Specificity
100 %
Genes
50 %
TRMU Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TRMU
Specificity
100 %
Genes
50 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
2 %
Genes
100 %
Liver Diseases Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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