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MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

The clinical features of a patient in a Chinese family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) are reported. The study revealed that hearing and visual impairments and miscarriages may be early clinical presentations in MELAS. A heterop...

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Autors principals: Huang, C C, Chen, R S, Chen, C M, Wang, H S, Lee, C C, Pang, C Y, Hsu, H S, Lee, H C, Wei, Y H
Format: Artigo
Idioma:Inglês
Publicat: 1994
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1072920/
https://ncbi.nlm.nih.gov/pubmed/8201329
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