Phenotypic Spectrum of &#945;-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.

Brown, Susan C; Fernandez-Fuente, Marta; Muntoni, Francesco; Vissing, John

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.

Brown, Susan C; Fernandez-Fuente, Marta; Muntoni, Francesco; Vissing, John.

Afiliación

Brown SC; Department of Comparative Biomedical Sciences, Royal Veterinary College, London, UK.
Fernandez-Fuente M; Department of Comparative Biomedical Sciences, Royal Veterinary College, London, UK.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK and National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London.
Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

J Neuropathol Exp Neurol ; 79(12): 1257-1264, 2020 12 04.

Article en En | MEDLINE | ID: mdl-33051673

Asunto(s)

Mutación; Pentosiltransferasa/genética; Fenotipo; Síndrome de Walker-Warburg/genética; Animales; Modelos Animales de Enfermedad; Humanos; Ratones

Palabras clave

Congenital muscular dystrophy; Limb girdle muscular dystrophy; c.919T>A variant in the FKRP gene

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pentosiltransferasa / Fenotipo / Síndrome de Walker-Warburg / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: J Neuropathol Exp Neurol Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido

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