ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

LGMD2L is a subtype of limb-girdle muscular dystrophy (LGMD), caused by recessive mutations in ANO5, encoding anoctamin-5 (ANO5). We present the analysis of five patients with skeletal muscle weakness for whom heterozygous mutations within ANO5 were identified by whole exome sequencing (WES). Patien...

Descripción completa

Detalles Bibliográficos
Autores principales: Jarmula, Adam, Łusakowska, Anna, Fichna, Jakub P., Topolewska, Malgorzata, Macias, Anna, Johnson, Katherine, Töpf, Ana, Straub, Volker, Rosiak, Edyta, Szczepaniak, Krzysztof, Dunin-Horkawicz, Stanisław, Maruszak, Aleksandra, Kaminska, Anna M., Redowicz, Maria Jolanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687736/
https://www.ncbi.nlm.nih.gov/pubmed/31395899
http://dx.doi.org/10.1038/s41598-019-47849-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687736/
https://www.ncbi.nlm.nih.gov/pubmed/31395899
http://dx.doi.org/10.1038/s41598-019-47849-3

Ejemplares similares