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Quoted phrase not found in phrase index: "Autosomal dominant mitochondrial myopathy with exercise intolerance"
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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M. Reyes A, et al. 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 …