Inherited myopathy plus: Double-trouble from rare neuromuscular disorders.
Granger A, Beecher G, Liewluck T, Nicolau S, Flanigan KM, Laughlin RS, Milone M.
Neuromuscul Disord. 2023 Feb;33(2):153-160. doi: 10.1016/j.nmd.2022.12.009. Epub 2022 Dec 15.
Desmin-related myopathy.
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP.
Clin Genet. 2011 Oct;80(4):354-66. doi: 10.1111/j.1399-0004.2010.01512.x. Epub 2010 Jul 21.
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
Hedberg-Oldfors C, Elíasdóttir Ó, Geijer M, Lindberg C, Oldfors A.
BMC Neurol. 2022 Nov 15;22(1):428. doi: 10.1186/s12883-022-02935-4.
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C.
Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393.
Inherited myopathy of great Danes.
Lujan Feliu-Pascual A, Shelton GD, Targett MP, Long SN, Comerford EJ, McMillan C, Davies D, Rusbridge C, Mellor D, Chang KC, Anderson TJ.
J Small Anim Pract. 2006 May;47(5):249-54. doi: 10.1111/j.1748-5827.2006.00073.x.
What is in the Myopathy Literature?
Isfort M, Lacomis D.
J Clin Neuromuscul Dis. 2024 Sep 1;26(1):16-31. doi: 10.1097/CND.0000000000000484.
Desmin myopathy.
Goldfarb LG, Vicart P, Goebel HH, Dalakas MC.
Brain. 2004 Apr;127(Pt 4):723-34. doi: 10.1093/brain/awh033. Epub 2004 Jan 14.
The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.
Marston S.
Int J Mol Sci. 2018 Jul 11;19(7):2020. doi: 10.3390/ijms19072020.
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA, Todd JJ, Meilleur KG.
Neurotherapeutics. 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1.
Resveratrol and Myopathy.
Bastin J, Djouadi F.
Nutrients. 2016 Apr 28;8(5):254. doi: 10.3390/nu8050254.
