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. 1981 Jan;44(1):79–82. doi: 10.1136/jnnp.44.1.79

Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?

R B Fitzsimons, P Clifton-Bligh, W H Wolfenden
PMCID: PMC490823  PMID: 6782198

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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