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The genetic mechanisms of this association are discussed.<\/jats:p>","DOI":"10.1136\/jmg.25.1.44","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"44-46","source":"Crossref","is-referenced-by-count":3,"title":["Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome."],"prefix":"10.1136","volume":"25","author":[{"given":"O","family":"Combarros","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Calleja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Leno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Berciano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,1,1]]},"reference":[{"key":"ref_1","article-title":"The hereditary ataxias and related disorders","author":"Harding, A.E.","year":"1984","unstructured":"Harding AE. 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Dev Ophthalmol 1981;3:1-45."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"589620","DOI":"10.1093\/brain\/104.3.589","article-title":"Freidreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features","volume":"104","author":"Harding, A.E.","year":"1981","unstructured":"Harding AE. Freidreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589620.","journal-title":"Brain"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1017\/S0317167100025518","article-title":"Nerve conduction studies and electromyography in Freidreich's ataxia","volume":"3","author":"Peyronnard, J.M.; Lapointe, L.; Bouchard, J.P.","year":"1976","unstructured":"Peyronnard JM, Lapointe L, Bouchard JP, et al. Nerve conduction studies and electromyography in Freidreich's ataxia. Can J Neurol Sci 1976;3:313-7.","journal-title":"Can J Neurol Sci"},{"key":"ref_7","first-page":"137","article-title":"Freidreich's ataxia. Early detection and progression of peripheral nerve abnormalities","volume":"55","author":"Ouvrier, R.A.; McLeod, J.G.; Conchin, T.E.","year":"1982","unstructured":"Ouvrier RA, McLeod JG, Conchin TE. Freidreich's ataxia. Early detection and progression of peripheral nerve abnormalities. J Neurol Sci 1982;55:137-45.","journal-title":"J Neurol Sci"},{"key":"ref_8","article-title":"Human genetics","author":"Vogel, F.; Motulsky, A.G.","year":"1979","unstructured":"Vogel F, Motulsky AG. Human genetics. Berlin: SpringerVerlag, 1979."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.1.44","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:34:34Z","timestamp":1760769274000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.1.44"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,1]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1988,1,1]]},"published-print":{"date-parts":[[1988,1]]}},"alternative-id":["10.1136\/jmg.25.1.44"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.1.44","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1988,1]]}}}