Distal myopathy

Definition:

Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.

References:

[1]. Bjarne Udd, et al. Genetics and pathogenesis of distal muscular dystrophies. Adv Exp Med Biol. 2009;652:23-38. [Content Brief]

[2]. 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]

[3]. Christopher Meredith, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. [Content Brief]

[4]. Hyung Jun Park, et al. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. Ann Neurol. 2016 Feb;79(2):231-43. [Content Brief]

[5]. I Eisenberg, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7. [Content Brief]

[6]. J Liu, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998 Sep;20(1):31-6. [Content Brief]

[7]. Jyoti K Jaiswal, et al. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic. 2007 Jan;8(1):77-88. [Content Brief]

[8]. Luigi Fulizio, et al. Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat. 2005 Jan;25(1):82-9. [Content Brief]

[9]. Marco Savarese, et al. Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. Ann Neurol. 2019 Jun;85(6):899-906. [Content Brief]

[10]. May Christine V Malicdan, et al. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India. 2008 Jul-Sep;56(3):314-24. [Content Brief]

[11]. Mridul Johari, et al. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta Neuropathol. 2021 Aug;142(2):375-393. [Content Brief]

[12]. Peter Hackman, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002 Sep;71(3):492-500. [Content Brief]

[13]. Peter Hackman, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol. 2013 Apr;73(4):500-9. [Content Brief]

[14]. Rachael M Duff, et al. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011 Jun 10;88(6):729-740. [Content Brief]

[15]. Robert C Bucelli, et al. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. Neurology. 2015 Aug 25;85(8):665-74. [Content Brief]

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