Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G

OBJECTIVE: To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation. METHODS: Standardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in FKRP. Muscle biopsies were reviewed and use...

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Detalles Bibliográficos
Autores principales: Lee, Angela J., Jones, Karra A., Butterfield, Russell J., Cox, Mary O., Konersman, Chamindra G., Grosmann, Carla, Abdenur, Jose E., Boyer, Monica, Beson, Brent, Wang, Ching, Dowling, James J., Gibbons, Melissa A., Ballard, Alison, Janas, Joanne S., Leshner, Robert T., Donkervoort, Sandra, Bönnemann, Carsten G., Malicki, Denise M., Weiss, Robert B., Moore, Steven A., Mathews, Katherine D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454397/
https://www.ncbi.nlm.nih.gov/pubmed/31041397
http://dx.doi.org/10.1212/NXG.0000000000000315

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