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Matches in SemOpenAlex for { <https://semopenalex.org/work/W1966320291> ?p ?o ?g. }

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• W1966320291 abstract "A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus." @default.
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• W1966320291 date "2005-12-01" @default.
• W1966320291 modified "2023-09-22" @default.
• W1966320291 title "A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy" @default.
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• W1966320291 doi "https://doi.org/10.1016/j.jns.2005.07.008" @default.
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