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Phenotype/Genotype Correlations in a DFNB1 Cohort With Ethnical Diversity

✍ Scribed by Simon I. Angeli

Book ID
110089364
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
149 KB
Volume
118
Category
Article
ISSN
0023-852X

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Phenotype–genotype correlations in skele
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Large-scale deletions of mitochondrial DNA (mtDNA) have been associated with a subgroup of mitochondrial encephalomyopathies, usually characterized by progressive external ophthalmoplegia (PEO) and mitochondrial proliferation in muscle fibers. We and others have shown that muscle from patients with