A novel <i>MRPS34</i> gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome.

A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome.

Lenzini, L; Carecchio, M; Iori, E; Legati, A; Lamantea, E; Avogaro, A; Vitturi, N.

Afiliação

Lenzini L; University of Padova, Department of Medicine-DIMED, University Hospital, Padova, Italy.
Carecchio M; Movement Disorders Unit, Department of Neurosciences, University of Padova, Padova, Italy.
Iori E; University of Padova, Department of Medicine-DIMED, Division of Metabolic Diseases, University Hospital, Padova, Italy.
Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Avogaro A; University of Padova, Department of Medicine-DIMED, Division of Metabolic Diseases, University Hospital, Padova, Italy.
Vitturi N; University of Padova, Department of Medicine-DIMED, Division of Metabolic Diseases, University Hospital, Padova, Italy.

Mol Genet Metab Rep ; 30: 100830, 2022 Mar.

Article em En | MEDLINE | ID: mdl-34938649

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article