Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy

OBJECTIVE: Myofibrillar myopathies (MFM) are morphologically distinct but genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then of myofibrils is followed by ectopic accumulation of multiple proteins. Cardiomyopathy, neuropathy, and dominant inheritance are freque...

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Hlavní autoři: Selcen, Duygu, Muntoni, Francesco, Burton, Barbara K., MD, Elena Pegoraro, Sewry, Caroline, Bite, Anna V., Engel, Andrew G.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2639628/
https://ncbi.nlm.nih.gov/pubmed/19085932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.21553
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