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• W2076722350 abstract "A case of mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, cerebellar ataxia and high-tone hearing loss is presented. There was no ptosis or ophthalmoplegia. Endocrine investigations showed a defect in hypothalamic function which was a likely cause of infertility. The case is compared with previously reported examples of mitochondrial myopathy with myoclonic epilepsy, and contrasted with the Kearns-Sayre syndrome. It is concluded that mitochondrial myopathy, myoclonic epilepsy and ataxia may be distinguishing features of a specific familial disease, which on presentation may mimic the Ramsay-Hung syndrome." @default.
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• W2076722350 date "1981-01-01" @default.
• W2076722350 modified "2023-09-27" @default.
• W2076722350 title "Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?" @default.
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• W2076722350 doi "https://doi.org/10.1136/jnnp.44.1.79" @default.
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