A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

Gillespie, Meredith K; McMillan, Hugh J; Kernohan, Kristin D; Pena, Izabella A; Meyer-Schuman, Rebecca; Antonellis, Anthony; Boycott, Kym M

Gillespie, Meredith K; McMillan, Hugh J; Kernohan, Kristin D; Pena, Izabella A; Meyer-Schuman, Rebecca; Antonellis, Anthony; Boycott, Kym M.

Afiliação

Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
McMillan HJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Kernohan KD; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Pena IA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Meyer-Schuman R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Boycott KM; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

J Neuromuscul Dis ; 6(3): 333-339, 2019.

Article em En | MEDLINE | ID: mdl-31356216

Assuntos

Doença de Charcot-Marie-Tooth/genética; Metionina tRNA Ligase/genética; Criança; Feminino; Humanos; Mutação; Fenótipo; Estrutura Terciária de Proteína

Palavras-chave

CMT2U; Charcot-Marie-Tooth disease type 2U; MARS; early-onset neuropathy; exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Metionina tRNA Ligase Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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