Neuromuscular disorders : NMD, 2015-05, Vol.25 (5), p.418-422
2015
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Details
- Autor(en) / Beteiligte
- Titel
- BAG3 myofibrillar myopathy presenting with cardiomyopathy
- Ist Teil von
- Neuromuscular disorders : NMD, 2015-05, Vol.25 (5), p.418-422
- Ort / Verlag
- England: Elsevier B.V
- Erscheinungsjahr
- 2015
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Highlights • Cardiomyopathy in BAG3 myofibrillar myopathy prior to onset of weakness. • Neuropathy associated with BAG3 overshadowing myopathy on EMG. • Severe axonal disease with demyelinating/remyelinating features.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0960-8966eISSN: 1873-2364DOI: 10.1016/j.nmd.2015.01.009Titel-ID: cdi_proquest_miscellaneous_1674688784
- Format
- –
- Schlagworte
- Adaptor Proteins, Signal Transducing - genetics, Adult, Apoptosis Regulatory Proteins - genetics, BAG3, Bcl-2-associated athanogene 3, Cardiomyopathies - complications, Cardiomyopathies - diagnosis, Cardiomyopathies - genetics, Heart Transplantation, Humans, Male, Muscle, Skeletal - innervation, Muscle, Skeletal - pathology, Mutation, Missense, Myofibrillar myopathy, Myopathies, Structural, Congenital - complications, Myopathies, Structural, Congenital - diagnosis, Myopathies, Structural, Congenital - genetics, Neural Conduction, Neurology, Neuropathy, Restrictive cardiomyopathy, Sural Nerve - pathology, Sural Nerve - physiopathology, Young Adult