A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

Myofibrillar myopathy (MFM) is a human disease that is characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Vorgerd, Matthias, van der Ven, Peter F. M., Bruchertseifer, Vera, Löwe, Thomas, Kley, Rudolf A., Schröder, Rolf, Lochmüller, Hanns, Himmel, Mirko, Koehler, Katrin, Fürst, Dieter O., Huebner, Angela
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2005
Schlagworte:
Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1224531/
https://ncbi.nlm.nih.gov/pubmed/15929027
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge