Myofibrillar myopathies

Definition:

Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is more pronounced than proximal weakness. All disease proteins identified to date are involved in maintaining the structural integrity of the Z-disk. The pathology includes accumulations of these proteins irrespective of primary gene defect, suggesting that these share molecular pathways involved in actin dynamics organized by the Z-disk. Besides accumulations of these proteins, congophilic amyloid products of myofibrillar degradation and ectopic aggregation of dystrophin and gelsolin appear in abnormal myofibers.

References:

[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]

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