Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
نویسندگان
چکیده
منابع مشابه
Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene
BACKGROUND Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties. OBJECTIVE Here we describe 4 patients with the classical Behr's syndrome phenotype from 3 unrelated families who carry homozygous nonse...
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Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
We describe the case of a woman in whom combination of a mitochondrial (MT-CYB) and a nuclear (SDHB) mutation was associated with clinical and metabolic features suggestive of a mitochondrial disorder. The mutations impaired overall energy metabolism in the patient's muscle and fibroblasts and increased cellular susceptibility to oxidative stress. To clarify the contribution of each mutation to...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.06.004