Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Desbats, Maria Andrea; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo

Desbats, Maria Andrea; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo.

Affiliation

Desbats MA; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, Padova, 35128, Italy.

J Inherit Metab Dis ; 38(1): 145-56, 2015 Jan.

Article in En | MEDLINE | ID: mdl-25091424

Subject(s)

Ataxia/diagnosis; Ataxia/genetics; Mitochondrial Diseases/diagnosis; Mitochondrial Diseases/genetics; Muscle Weakness/diagnosis; Muscle Weakness/genetics; Ubiquinone/deficiency; Adenosine Triphosphate/chemistry; Animals; Ataxia/physiopathology; Central Nervous System Diseases/metabolism; Disease Models, Animal; Electron Transport; Humans; Mice; Mitochondria/metabolism; Mitochondrial Diseases/physiopathology; Muscle Weakness/physiopathology; Nephrotic Syndrome/metabolism; Oxidative Stress; Phenotype; Ubiquinone/analogs & derivatives; Ubiquinone/chemistry; Ubiquinone/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Ubiquinone / Muscle Weakness / Mitochondrial Diseases Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: J Inherit Metab Dis Year: 2015 Document type: Article Affiliation country: Italy Country of publication: United States

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