Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey

BACKGROUND: A Dutch cohort of 105 carefully selected limb girdle muscular dystrophy (LGMD) patients from 68 families has been subject to genetic testing over the last 20 years. After subsequent targeted gene analysis around two thirds (45/68) of the families had received a genetic diagnosis in 2013....

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Detalles Bibliográficos
Autores principales: ten Dam, L., de Visser, M., Ginjaar, Ieke B., van Duyvenvoorde, Hermine A., van Koningsbruggen, Silvana, van der Kooi, Anneke J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9789482/
https://www.ncbi.nlm.nih.gov/pubmed/33386810
http://dx.doi.org/10.3233/JND-200585

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