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...

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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2005
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1224531/
https://ncbi.nlm.nih.gov/pubmed/15929027
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