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The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H. Han J, et al. Turk J Med Sci. 2022 Aug;52(4):1256-1265. doi: 10.55730/1300-0144.5431. Epub 2022 Aug 10. Turk J Med Sci. 2022. PMID: 36326420 Free PMC article.
After therapy, 18 patients were associated with a favorable prognosis, and two patients were ineffective with the treatment of neutral lipid storage myopathy (NLSDM) caused by PNPLA2 mutation. ...
After therapy, 18 patients were associated with a favorable prognosis, and two patients were ineffective with the treatment of neutra …
Riboflavin-responsive lipid-storage myopathy in elderly patients.
Sadeh M, Dory A, Lev D, Yosovich K, Dabby R. Sadeh M, et al. J Neurol Sci. 2024 Jan 15;456:122808. doi: 10.1016/j.jns.2023.122808. Epub 2023 Nov 24. J Neurol Sci. 2024. PMID: 38043332
Genetic analysis failed to identify any pathogenic variant in one patient, identified a heterozygous variant of uncertain significance c.812 A > G; p.Tyr271Cys in the ETFDH gene in the second patient, and revealed a heterozygote likely pathogenic variant c.1286-2 A > C in t …
Genetic analysis failed to identify any pathogenic variant in one patient, identified a heterozygous variant of uncertain significance c.812 …
Ranolazine-induced lipid storage myopathy presenting with respiratory failure and head drop.
Paul P, Vazquez Do Campo R, Liewluck T, Naddaf E. Paul P, et al. Neuromuscul Disord. 2021 Jun;31(6):546-550. doi: 10.1016/j.nmd.2021.03.004. Epub 2021 Mar 22. Neuromuscul Disord. 2021. PMID: 33903020
Treating physicians should be aware of this rare but potentially debilitating adverse effect of ranolazine. Prognosis is good upon discontinuation of the offending drug....
Treating physicians should be aware of this rare but potentially debilitating adverse effect of ranolazine. Prognosis is good upon di …
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Xu H, Chen X, Lian Y, Wang S, Ji T, Zhang L, Li S. Xu H, et al. Int J Neurosci. 2020 Dec;130(12):1192-1198. doi: 10.1080/00207454.2020.1730831. Epub 2020 Mar 9. Int J Neurosci. 2020. PMID: 32064983
In addition, the next generation revealed a novel missense mutation (c.970G > T, p.Val324Leu) in exon 8, which was predicted to be a disease-causing mutation by Mutation-taster, and destroy the function of the protein by Sift.Conclusion: These findings expand the known …
In addition, the next generation revealed a novel missense mutation (c.970G > T, p.Val324Leu) in exon 8, which was predicted to be …