{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:03:34Z","timestamp":1777802614160,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2002,6,1]],"date-time":"2002-06-01T00:00:00Z","timestamp":1022889600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2002,6]]},"abstract":"<jats:p>A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities. No mutation was found in skeletal muscle mitochondrial DNA to explain this finding. Molecular genetic and pathologic studies confirmed a diagnosis of Friedreich's ataxia in the proband and affected relatives. Although the Friedreich's ataxia phenotype results from decreased expression of a mitochondrially targeted protein, frataxin, mitochondrial myopathy has not been described as a feature of the disease. The association between the frataxin gene mutation and mitochondrial myopathy in this case suggests that severe or cumulative insults to mitochondrial function may produce myopathic changes in some cases of Friedreich's ataxia. The patient also responded clinically to carnitine supplementation, suggesting a potential palliative therapy for the disease. (J Child Neurol 2002;17:453-456).<\/jats:p>","DOI":"10.1177\/088307380201700612","type":"journal-article","created":{"date-parts":[[2008,3,31]],"date-time":"2008-03-31T18:40:10Z","timestamp":1206988810000},"page":"453-456","source":"Crossref","is-referenced-by-count":7,"title":["Friedreich's Ataxia Associated With Mitochondrial Myopathy: Clinicopathologic Report"],"prefix":"10.1177","volume":"17","author":[{"given":"Catherine L.","family":"Gallagher","sequence":"first","affiliation":[{"name":"Department of Neurology University of Wisconsin Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew J.","family":"Waclawik","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Wisconsin Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brad R.","family":"Beinlich","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Wisconsin Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cary O.","family":"Harding","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Oregon Health Sciences University Portland, Oregon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Medical Gene University of Wisconsin Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9e","family":"Poirer","sequence":"additional","affiliation":[{"name":"Department of Medicine Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al Montr\u00e9al, Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Pandolfo","sequence":"additional","affiliation":[{"name":"Department of Medicine Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al Montr\u00e9al, Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Shahriar Salamat","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Wisconsin Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2002,6,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.589"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.10.1201"},{"key":"atypb3","unstructured":"Sanjak M., Belden D., Cook T., et al: Muscle strength measurement, in Lane RD (ed): Handbook of Muscle Disease. 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