{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:31:05Z","timestamp":1777437065142,"version":"3.51.4"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1981,1,1]]},"DOI":"10.1136\/jnnp.44.1.79","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:16:40Z","timestamp":1226351800000},"page":"79-82","source":"Crossref","is-referenced-by-count":42,"title":["Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?"],"prefix":"10.1136","volume":"44","author":[{"given":"R B","family":"Fitzsimons","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Clifton-Bligh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W H","family":"Wolfenden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"issue":"68","key":"ref_1","first-page":"369","article-title":"Electrophysiological abnormalities in pigmentary degenerations of the retina. Assessment of value and basis","volume":"1962","author":"Arden, G.B.; Fojas, M.R.","unstructured":"Arden GB, Fojas MR. Electrophysiological abnormalities in pigmentary degenerations of the retina. Assessment of value and basis. Arch Ophthalmol 1962; 68:369-89. References","journal-title":"Arch Ophthalmol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/ana.410010104","article-title":"Lumping or Splitting? \"Ophthalmoplegia-Plus\" or Kearns-Sayre Syndrome?","volume":"1","author":"Berenberg, R.A.; Pellock, J.M.; DiMauro, S.","year":"1977","unstructured":"Berenberg RA, Pellock JM, DiMauro S et al. Lumping or Splitting? \"Ophthalmoplegia-Plus\" or Kearns-Sayre Syndrome? Ann Neurol 1977; 1: 37-54.","journal-title":"Ann Neurol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1001\/archopht.1958.00940080296016","article-title":"Retinitis pigmentosa, external ophthalmoplegia and complete heart block","volume":"60","author":"Kearns, T.P.; Sayre, G.P.","year":"1958","unstructured":"Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalmol 1958; 60:280-9.","journal-title":"Arch Ophthalmol"},{"issue":"10","key":"ref_4","article-title":"The Kearns-Sayre-Shy syndrome","volume-title":"Handbook of Clinical Neurology. Neurological Manifestations of Systemic Disease","volume":"38","author":"Karpati, G.","year":"1979","unstructured":"Karpati G. The Kearns-Sayre-Shy syndrome. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology. Neurological Manifestations of Systemic Disease. Amsterdam: Elsevier\/North Holland Biomedical Press, 1979: vol 38, chap 10."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1212\/WNL.26.2.140","article-title":"Depressed ventilatory response in oculocraniosomatic neuromuscular disease","volume":"26","author":"Carroll, J.E.; Zwillich, C.; Weil, J.V.; Brooke, M.H.","year":"1976","unstructured":"Carroll JE, Zwillich C, Weil JV, Brooke MH. Depressed ventilatory response in oculocraniosomatic neuromuscular disease. Neurology (Minneap) 1976; 26:140-6.","journal-title":"Neurology (Minneap)"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1093\/brain\/100.4.617","article-title":"A mitochondrial myopathy characterised by a deficiency in reducible cytochrome b","volume":"100","author":"Morgan-Hughes, J.A.; Darveniza, P.; Kahn, S.N.","year":"1977","unstructured":"Morgan-Hughes JA, Darveniza P, Kahn SN et al. A mitochondrial myopathy characterised by a deficiency in reducible cytochrome b. Brain 1977; 100:617-40.","journal-title":"Brain"},{"key":"ref_7","first-page":"408","article-title":"Luft's disease. Further biochemical and ultrastructural epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities","volume":"23","author":"DiMauro, S.; Bonilla, E.; Lee, C.P.","year":"1973","unstructured":"DiMauro S, Bonilla E, Lee CP et al. Luft's disease. Further biochemical and ultrastructural epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities. Neurology (Minneap) 1973; 23:408.","journal-title":"Neurology (Minneap)"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1001\/archneur.1970.00480260009002","article-title":"A cytochrome-related inherited disorder of the nervous system and muscle","volume":"23","author":"Spiro, A.J.; Moore, C.L.; Prineas, J.W.; Strasberg, P.M.; Rapin, I.","year":"1970","unstructured":"Spiro AJ, Moore CL, Prineas JW, Strasberg PM, Rapin I. A cytochrome-related inherited disorder of the nervous system and muscle. Arch Neurol 1970; 23:103-12.","journal-title":"Arch Neurol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1212\/WNL.25.7.614","article-title":"Familial poliodystrophy, mitochondrial myopathy and lactate acidemia","volume":"25","author":"Shapira, Y.; Cederbaum, S.D.; Cancilla, P.A.; Nielsen, D.; Lippe, B.M.","year":"1975","unstructured":"Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D, Lippe BM. Familial poliodystrophy, mitochondrial myopathy and lactate acidemia. Neurology (Minneap) 1975; 25:614-21.","journal-title":"Neurology (Minneap)"},{"key":"ref_10","first-page":"264","article-title":"Familial metabolic disease with clinicopathological findings of both Leigh's disease and adult-type spinocerebellar degeneration","volume":"2","author":"Guggenheim, M.A.; Stumpf, D.A.","year":"1977","unstructured":"Guggenheim MA, Stumpf DA. Familial metabolic disease with clinicopathological findings of both Leigh's disease and adult-type spinocerebellar degeneration. Ann Neurol 1977; 2:264-5.","journal-title":"Ann Neurol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1212\/WNL.24.1.49","article-title":"Ragged-red fibres in Leigh's disease","volume":"24","author":"Crosby, T.W.; Chou, S.M.","year":"1974","unstructured":"Crosby TW, Chou SM. Ragged-red fibres in Leigh's disease. Neurology (Minneap) 1974; 24: 49-54.","journal-title":"Neurology (Minneap)"},{"issue":"44","key":"ref_12","first-page":"490","article-title":"Dyssynergia cerebellaris myoclonicaprimary atrophy of the dentate system: a contribution to the pathology and symptomatology of the cerebellum","volume":"1921","author":"Hunt, JR","unstructured":"Hunt JR. Dyssynergia cerebellaris myoclonicaprimary atrophy of the dentate system: a contribution to the pathology and symptomatology of the cerebellum. Brain 1921; 44:490-538. studies of skeletal muscle in the second case.","journal-title":"Brain"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0022-510X(76)90063-0","volume":"27","author":"Daroff, R.B.; Solitare, G.B.; Pincus, J.H.; Glaser, G.H.","year":"1976","unstructured":"Daroff RB, Solitare GB, Pincus JH, Glaser GH. J Neurol Sci 1976; 27:217-32.","journal-title":"J Neurol Sci"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/0022-510X(80)90031-3","volume":"47","author":"Hackett, T.N.; Bray, P.F.; Ziter, F.A.; Nyhan, W.L.; Literature","year":"1980","unstructured":"Hackett TN, Bray PF, Ziter FA, Nyhan WL, Literature. J Neurol Sci 1980; 47:117-33.","journal-title":"J Neurol Sci"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.44.1.79","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T03:50:56Z","timestamp":1601092256000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.44.1.79"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1981,1,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.44.1.79","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1981,1,1]]}}}