Maternally inherited mitochondrial myopathy and myoclonic epilepsy

H. S. Rosing, L. C. Hopkins, D. C. Wallace, C. M. Epstein, Karen M. Weidenheim

Research output: Contribution to journalArticle

144 Citations (Scopus)

Abstract

A family is described with familial myoclonic epilepsy associated with mitochondrial myopathy. The disorder follows a maternal inheritance pattern consistent with a mitochondrial DNA (mtDNA) mutation. The large kindred permitted exclusion of autosomal dominant, recessive, and X-linked patterns of transmission. Several characteristics of the inheritance and variability of expression within the pedigree are consistent with recently acquired knowledge about the genetics of human mtDNA. The clinical spectrum of disease is compatible with a proportionality model of mutant and wild-type mtDNAs. Muscle biopsies of affected patients showed an increased number of abnormal muscle mitochondria. Serum levels of pyruvate or pyruvate and lactate were elevated. The most severely affected patient had constant myoclonic jerking, dementia, ataxia, spasticity hearing loss and hypoventilation. Cerebral dysfunction in patients with mild involvement was marked by prominent photic driving seen on electroencephalograms and high-amplitude visual and somatosensory evoked responses but no myoclonus, ataxia, or dementia. The individual clinical features of the disease worsen over time for all patients; however, mildly affected patients have not become moderately affected and moderately affected patients have not become severely affected.

Original languageEnglish (US)
Pages (from-to)228-237
Number of pages10
JournalAnnals of Neurology
Volume17
Issue number3
DOIs
StatePublished - 1985
Externally publishedYes

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Mitochondrial Myopathies
Myoclonic Epilepsy
Pyruvic Acid
Mitochondrial DNA
Dementia
Muscle Mitochondrion
Hypoventilation
Inheritance Patterns
Myoclonus
Visual Evoked Potentials
Medical Genetics
Ataxia
Pedigree
Hearing Loss
Maternal Inheritance
Electroencephalography
Lactic Acid
Biopsy
Muscles
Mutation

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Rosing, H. S., Hopkins, L. C., Wallace, D. C., Epstein, C. M., & Weidenheim, K. M. (1985). Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Annals of Neurology, 17(3), 228-237. https://doi.org/10.1002/ana.410170303

Maternally inherited mitochondrial myopathy and myoclonic epilepsy. / Rosing, H. S.; Hopkins, L. C.; Wallace, D. C.; Epstein, C. M.; Weidenheim, Karen M.

In: Annals of Neurology, Vol. 17, No. 3, 1985, p. 228-237.

Research output: Contribution to journalArticle

Rosing, HS, Hopkins, LC, Wallace, DC, Epstein, CM & Weidenheim, KM 1985, 'Maternally inherited mitochondrial myopathy and myoclonic epilepsy', Annals of Neurology, vol. 17, no. 3, pp. 228-237. https://doi.org/10.1002/ana.410170303
Rosing HS, Hopkins LC, Wallace DC, Epstein CM, Weidenheim KM. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Annals of Neurology. 1985;17(3):228-237. https://doi.org/10.1002/ana.410170303
Rosing, H. S. ; Hopkins, L. C. ; Wallace, D. C. ; Epstein, C. M. ; Weidenheim, Karen M. / Maternally inherited mitochondrial myopathy and myoclonic epilepsy. In: Annals of Neurology. 1985 ; Vol. 17, No. 3. pp. 228-237.
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