Novel NARS2 variant causing leigh syndrome with normal lactate levels.

Tanaka, Ryosuke; Takeguchi, Ryo; Kuroda, Mami; Suzuki, Nao; Makita, Yoshio; Yanagi, Kumiko; Kaname, Tadashi; Takahashi, Satoru.

Afiliação

Tanaka R; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan. ryot5p@asahikawa-med.ac.jp.
Takeguchi R; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
Kuroda M; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
Suzuki N; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
Makita Y; Department of Genetic Counseling, Asahikawa Medical University Hospital, Asahikawa, Japan.
Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Takahashi S; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.

Hum Genome Var ; 9(1): 12, 2022 May 04.

Article em En | MEDLINE | ID: mdl-35508527

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