Mitochondrial myopathies

@article{Dimauro1987MitochondrialM,
  title={Mitochondrial myopathies},
  author={Salvatore Dimauro and Eduardo Bonilla and Massimo Zeviani and Masanori Nakagawa and Darryl C Devivo},
  journal={Annals of Neurology},
  year={1987},
  volume={17}
}
Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria. There are a few distinctive syndromes, such as the Kearns‐Sayre syndrome; myoclonus epilepsy with ragged‐red fibers; and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Biochemically, mitochondrial myopathies can… 
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The research focus on mitochondrial disease is shifting towards finding better treatments since the genetic diagnosis can be rapidly achieved with the advancement of next-generation sequencing and the advent of mitochondrial donation techniques has a significant potential for reducing the transmission of mtDNA mutations and therefore the prevalence of primary mitochondrial disease.
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Primary mitochondrial diseases will most likely benefit from a multidisciplinary approach encompassing clinical, molecular and computational studies integrated together by systems biology to elucidate underlying pathomechanisms for better diagnostics and therapeutic discovery.
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Evidence is provided that 1000 mg RSV daily is ineffective in improving exercise capacity in adults with MM, indicating that previous in vitro studies suggesting a therapeutic potential for RSV in MM, do not translate into clinically meaningful effects in vivo.
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References

SHOWING 1-10 OF 14 REFERENCES
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
TLDR
Observations demonstrate that mtDNA heteroplasmy can occur in man and that human disease may be associated with defects of the mitochondrial genome.
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.
TLDR
CoQ10 deficiency is established as a cause of a familial mitochondrial cytopathy and it is suggested that the disease results from a tissue-specific defect of CoQ10 biosynthesis.
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiency
TLDR
The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
TLDR
In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible, and the biochemical basis for this difference remains to be explained.
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
TLDR
This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
TLDR
Sequence analysis of mutant mtDNAs showed that all the deletions start within a 12-nucleotide stretch at the 5′ end of the D-loop region, a site of active communication between the nucleus and the mtDNA, indicating that a mutation of a nuclear-coded protein can destroy the integrity of the mitochondrial genome in a specific, heritable way.
Muscle pathology in cytochrome c oxidase deficiency.
TLDR
Muscle biopsies from 16 patients with cytochrome c oxidase (CCO) deficiency were examined morphologically, suggesting that enzyme activity differed from tissue to tissue (tissue specificity); muscle pathology in two patients with the benign infantile form improved as they grew older.
Benign reversible muscle cytochrome c oxidase deficiency
TLDR
This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency, and the severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child.
Fatal infantile cytochrome c oxidase deficiency
TLDR
The data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle.
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