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BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.
Xu Y, Liu SX, Xu WB, Luo JM, Niu JW, Liu Z, Gao JM, Wang JL, Dai Y, Wang MZ. Xu Y, et al. Chin Med Sci J. 2021 Dec 31;36(4):265-278. doi: 10.24920/003883. Chin Med Sci J. 2021. PMID: 34986963 Review.
The male to female ratio was 11:10 and most showed initial symptoms in the first decade of life. ...In the long-term follow-up, five patients died of cardiac or respiratory failure. Conclusion BAG3-associated myopathy is a rare type of myofibrillar myopathy. …
The male to female ratio was 11:10 and most showed initial symptoms in the first decade of life. ...In the long-term follow-up, five …
[Myofibrillar myopathy].
Hayashi YK. Hayashi YK. Brain Nerve. 2011 Nov;63(11):1179-88. Brain Nerve. 2011. PMID: 22068470 Review. Japanese.
Myofibrillar myopathy (MFM) describes a group of hereditary myopathies pathologically characterized as markedly disorganized myofibrils with cytoplasmic inclusions. ...
Myofibrillar myopathy (MFM) describes a group of hereditary myopathies pathologically characterized as markedly disorganized m
Mitochondrial abnormalities in the myofibrillar myopathies.
Jackson S, Schaefer J, Meinhardt M, Reichmann H. Jackson S, et al. Eur J Neurol. 2015 Nov;22(11):1429-35. doi: 10.1111/ene.12814. Epub 2015 Jul 23. Eur J Neurol. 2015. PMID: 26204918 Review.
Mitochondrial abnormalities have been described in muscle from patients with a myofibrillar myopathy. We reviewed the literature to determine the extent of mitochondrial dysfunction in each of the myofibrillar myopathy subtypes. ...
Mitochondrial abnormalities have been described in muscle from patients with a myofibrillar myopathy. We reviewed the literatu …
End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.
Katzberg H, Karamchandani J, So YT, Vogel H, Wang CH. Katzberg H, et al. J Child Neurol. 2010 Nov;25(11):1382-8. doi: 10.1177/0883073810367683. Epub 2010 May 5. J Child Neurol. 2010. PMID: 20445193 Review.
Review of muscle pathology confirmed the diagnoses of Becker muscular dystrophy, myofibrillar myopathy, mitochondrial myopathy with cytochrome oxidase deficiency, Danon disease, and glycogen storage disease. ...
Review of muscle pathology confirmed the diagnoses of Becker muscular dystrophy, myofibrillar myopathy, mitochondrial myopathy …