Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders characterized by disintegration of myofibrils. The inheritance pattern in MFMs is commonly autosomal dominant, but there has been a striking absence of secondary cases noted in a BAG3-associated subtype. We studied t...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Odgerel, Zagaa, Sarkozy, Anna, Lee, Hee-Suk, McKenna, Caoimhe, Rankin, Julia, Straub, Volker, Lochmüller, Hanns, Paola, Francalanci, D’Amico, Adele, Bertini, Enrico, Bushby, Kate, Goldfarb, Lev G
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2010
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2900409/
https://ncbi.nlm.nih.gov/pubmed/20605452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.05.004
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