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Quoted phrase not found in phrase index: "Autosomal dominant mitochondrial myopathy with exercise intolerance"
Page 1
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18.
Am J Hum Genet. 2015.
PMID: 26094573
Free PMC article.
The underlying genetic defects comprise autosomal-dominant or recessive mutations in several nuclear genes, most of which play a role in mtDNA replication. ...Ragged-red and cytochrome c oxidase (COX)-negative fibers, together with impaired activity of various mi …
The underlying genetic defects comprise autosomal-dominant or recessive mutations in several nuclear genes, most of which play …
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A.
Martin-Negrier ML, et al.
Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29.
Eur J Neurol. 2011.
PMID: 20880070
Review.
We present a new French family of whom two members displayed myopathy and neuropathy associated with PEO, and we perform a clinical review in light of other observations reported in the literature. ...Respiratory insufficiency caused by chest wall weakness was repor …
We present a new French family of whom two members displayed myopathy and neuropathy associated with PEO, and we perform a clinical r …
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