[SORD-related hereditary neuropathies].

Fernández-Eulate, Gorka; Bruneel, Arnaud; Stojkovic, Tanya

[SORD-related hereditary neuropathies]. / Les neuropathies héréditaires associées au gène SORD.

Fernández-Eulate, Gorka; Bruneel, Arnaud; Stojkovic, Tanya.

Afiliação

Fernández-Eulate G; Centre de Référence des Maladies Neuromusculaires Nord-Est/Île-de-France, Institut de Myologie, GHU Pitié-Salpêtrière, AP-HP, Paris, France - Centre de Référence des Maladies Lysosomales, GHU Pitié-Salpêtrière, AP-HP, Paris, France.
Bruneel A; Service de Biochimie Métabolique et Cellulaire, CHU Bichat, AP-HP, Paris, France.
Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord-Est/Île-de-France, Institut de Myologie, GHU Pitié-Salpêtrière, AP-HP, Paris, France.

Med Sci (Paris) ; 37 Hors série n° 1: 30-31, 2021 Nov.

Article em Fr | MEDLINE | ID: mdl-34878391

ABSTRACT

ABSTRACT

Mutations in the SORD gene have recently been identified as a cause of autosomal Charcot-Marie-Tooth disease as well as the underlying defect in some cases of hereditary distal motoneuronopathies. Patients may be amenable to therapies in a near future.

Assuntos

Doença de Charcot-Marie-Tooth; Doença de Charcot-Marie-Tooth/diagnóstico; Doença de Charcot-Marie-Tooth/genética; Humanos; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: Fr Revista: Med Sci (Paris) Ano de publicação: 2021 Tipo de documento: Article

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