Journal
NEUROMUSCULAR DISORDERS
Volume 17, Issue 3, Pages 258-261Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2006.11.006
Keywords
mitochondrial DNA; tRNA(Cys); homoplasmic mutation; nuclear factors
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Funding
- NICHD NIH HHS [HD32062] Funding Source: Medline
- NINDS NIH HHS [NS11766] Funding Source: Medline
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We report a patient with severe encephalomyopathy and homoplasmic A5814G point mutation in the mitochondrial DNA tRNA gene for cysteine. This mutation had been reported in heteroplasmic condition in patients with different clinical phenotypes. Our results confirm the pathogenicity of the mutation and support the concept that homoplasmic mutations in tRNA genes can be responsible for mitochondrial disorders with variable penetrance. This report also extends the clinical spectrum associated with the A5814G mutation. (C) 2006 Elsevier B.V. All rights reserved.
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