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...

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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Fichna, Jakub Piotr, Karolczak, Justyna, Potulska-Chromik, Anna, Miszta, Przemyslaw, Berdynski, Mariusz, Sikorska, Agata, Filipek, Slawomir, Redowicz, Maria Jolanta, Kaminska, Anna, Zekanowski, Cezary
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277352/
https://ncbi.nlm.nih.gov/pubmed/25541946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0115470
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