Myofibrillar myopathies

[1]. Bjarne Udd, et al. Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. Biochim Biophys Acta. 2007 Feb;1772(2):145-58. [Content Brief]

[2]. Carola Hedberg-Oldfors, et al. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020 Aug 1;143(8):2406-2420. [Content Brief]

[3]. Duygu Selcen, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol. 2009 Jan;65(1):83-9. [Content Brief]

[4]. Duygu Selcen, et al. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57(2):269-76. [Content Brief]

[5]. Gerald Pfeffer, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain. 2012 Jun;135(Pt 6):1695-713. [Content Brief]

[6]. Gina L O'Grady, et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. [Content Brief]

[7]. Hormos Salimi Dafsari, et al. Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy. Acta Neuropathol Commun. 2019 Dec 18;7(1):211. [Content Brief]

[8]. L G Goldfarb, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998 Aug;19(4):402-3. [Content Brief]

[9]. M A Hauser, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. [Content Brief]

[10]. Marian A J Weterman, et al. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain. 2013 Jan;136(Pt 1):282-93. [Content Brief]

[11]. Matthias Vorgerd, et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005 Aug;77(2):297-304. [Content Brief]

[12]. P Vicart, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998 Sep;20(1):92-5. [Content Brief]

[13]. Rachel Straussberg, et al. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Acta Neuropathol. 2016 Sep;132(3):475-8. [Content Brief]