A recurrent GARS mutation causes distal hereditary motor neuropathy.

Lee, Diana C; Meyer-Schuman, Rebecca; Bacon, Chelsea; Shy, Michael E; Antonellis, Anthony; Scherer, Steven S

Lee, Diana C; Meyer-Schuman, Rebecca; Bacon, Chelsea; Shy, Michael E; Antonellis, Anthony; Scherer, Steven S.

Afiliación

Lee DC; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Bacon C; Department of Neurology, The University of Iowa, Iowa City, Iowa.
Shy ME; Department of Neurology, The University of Iowa, Iowa City, Iowa.
Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

J Peripher Nerv Syst ; 24(4): 320-323, 2019 12.

Article en En | MEDLINE | ID: mdl-31628756

Asunto(s)

Glicina-ARNt Ligasa/genética; Atrofia Muscular Espinal/genética; Atrofia Muscular Espinal/fisiopatología; Adolescente; Adulto; Femenino; Humanos; Mutación; Adulto Joven

Palabras clave

CMT; Charcot-Marie-Tooth disease; HMN; aminoacyl transferase

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Glicina-ARNt Ligasa Tipo de estudio: Etiology_studies Límite: Adolescent / Adult / Female / Humans Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article

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