Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families

Desmin is a muscle-specific intermediate filament protein which forms a network connecting the sarcomere, T tubules, sarcolemma, nuclear membrane, mitochondria and other organelles. Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomyopathy, or isolate...

Descripción completa

Detalles Bibliográficos
Autores principales: Fichna, Jakub Piotr, Karolczak, Justyna, Potulska-Chromik, Anna, Miszta, Przemyslaw, Berdynski, Mariusz, Sikorska, Agata, Filipek, Slawomir, Redowicz, Maria Jolanta, Kaminska, Anna, Zekanowski, Cezary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277352/
https://www.ncbi.nlm.nih.gov/pubmed/25541946
http://dx.doi.org/10.1371/journal.pone.0115470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277352/
https://www.ncbi.nlm.nih.gov/pubmed/25541946
http://dx.doi.org/10.1371/journal.pone.0115470

Ejemplares similares