Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

OBJECTIVE: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. METHODS: We describe 9 patients from 5 families in whom muscle biopsies s...

Descripción completa

Detalles Bibliográficos
Autores principales: Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, Petit, François M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306/
https://www.ncbi.nlm.nih.gov/pubmed/29264399
http://dx.doi.org/10.1212/NXG.0000000000000208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306/
https://www.ncbi.nlm.nih.gov/pubmed/29264399
http://dx.doi.org/10.1212/NXG.0000000000000208

Ejemplares similares