Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

Neurology

Volumn 56, Issue 7, 2001, Pages 849-855

  Musumeci, O ^a   Naini, A ^a   Slonim, A E ^b   Skavin, N ^b   Hadjigeorgiou, G L ^f   Krawiecki, N ^c   Weissman, B M ^c   Tsao, C Y ^d   Mendell, J R ^e   Shanske, S ^a   De Vivo, D C ^a   Hirano, M ^a   DiMauro, S ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b NORTH SHORE UNIVERSITY HOSPITAL   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NATIONWIDE CHILDREN S HOSPITAL   (United States)

^e OHIO STATE UNIVERSITY   (United States)

^f 4 420 College of Physicians and Surgeons ^*

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE ENZYME; UBIDECARENONE;

ADOLESCENT; ADULT; ARTICLE; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIET SUPPLEMENTATION; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; FAMILIAL DISEASE; FEMALE; HUMAN; LIPID STORAGE; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MYOGLOBINURIA; PRIORITY JOURNAL; SEIZURE; TREATMENT OUTCOME;

EID: 0035836740     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.7.849     Document Type: Article

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21. Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families