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MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Hum Mutat ; 34(11): 1501-9, 2013 Nov.
Article in En | MEDLINE | ID: mdl-23929671

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Yeasts / Cardiomyopathy, Hypertrophic / Acidosis, Lactic / Carrier Proteins / Electron Transport Chain Complex Proteins / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Affiliation country: Italia Country of publication: Estados Unidos

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Yeasts / Cardiomyopathy, Hypertrophic / Acidosis, Lactic / Carrier Proteins / Electron Transport Chain Complex Proteins / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Affiliation country: Italia Country of publication: Estados Unidos