Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes exhaustive clinical testing, prioritizing sequencing of specific genes is difficult due to the similarity of clinical presentation, and the numbe...

Descripción completa

Detalles Bibliográficos
Autores principales: McDonald, Kristin K., Stajich, Jeffrey, Blach, Colette, Ashley-Koch, Allison E., Hauser, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498247/
https://www.ncbi.nlm.nih.gov/pubmed/23155419
http://dx.doi.org/10.1371/journal.pone.0048864

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498247/
https://www.ncbi.nlm.nih.gov/pubmed/23155419
http://dx.doi.org/10.1371/journal.pone.0048864

Ejemplares similares