Distal myopathy
Definition:
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]
Molarity Calculator
Dilution Calculator
