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Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.06.019
Abstract: Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. Less than twenty patients have been described, almost all with severe cardiac involvement. We present a 26-year-old man with…
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Keywords:
associated cardiomyopathy;
muscle;
myopathy always;
bag3 myopathy ... See more keywords
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Published in 2020 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000300
Abstract: Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsiness in the first decade with rapid progression to cardiomyopathy and restrictive lung disease in the second decade. Most patients…
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Keywords:
prominent neuropathic;
neuropathic phenotype;
bag3 myopathy;
respiratory involvement ... See more keywords