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Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S. Akaba Y, et al. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54. doi: 10.1097/CND.0000000000000392. J Clin Neuromuscul Dis. 2022. PMID: 36005473 Review.
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. ...
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar de …
Diagnosis of muscle diseases presenting with early respiratory failure.
Pfeffer G, Povitz M, Gibson GJ, Chinnery PF. Pfeffer G, et al. J Neurol. 2015 May;262(5):1101-14. doi: 10.1007/s00415-014-7526-1. Epub 2014 Nov 7. J Neurol. 2015. PMID: 25377282 Review.
Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include …
Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TT …
Phosphorylation of αB-crystallin: Role in stress, aging and patho-physiological conditions.
Bakthisaran R, Akula KK, Tangirala R, Rao ChM. Bakthisaran R, et al. Biochim Biophys Acta. 2016 Jan;1860(1 Pt B):167-82. doi: 10.1016/j.bbagen.2015.09.017. Epub 2015 Sep 28. Biochim Biophys Acta. 2016. PMID: 26415747 Free article. Review.
Phosphorylation of S45 is mediated by p44/42 MAP kinase, whereas S59 phosphorylation is mediated by MAPKAP kinase-2. Pathway involved in S19 phosphorylation is not known. SCOPE OF REVIEW: The review highlights the role of phosphorylation in (i) oligomeric structure, stabil …
Phosphorylation of S45 is mediated by p44/42 MAP kinase, whereas S59 phosphorylation is mediated by MAPKAP kinase-2. Pathway involved …
BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.
Malatesta L, Arya K, Gokden M, Stefans V, Veerapandiyan A. Malatesta L, et al. J Clin Neuromuscul Dis. 2020 Jun;21(4):230-239. doi: 10.1097/CND.0000000000000300. J Clin Neuromuscul Dis. 2020. PMID: 32453099 Review.
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. ...Whole exome sequencing …
Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsine …