Limb-girdle muscular dystrophy

[1]. Bruno F Gavassini, et al. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve. 2011 Nov;44(5):703-9. [Content Brief]

[2]. Burcu Balci, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr;15(4):271-5. [Content Brief]

[3]. Caroline Godfrey, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006 Nov;60(5):603-610. [Content Brief]

[4]. Caroline Godfrey, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. [Content Brief]

[5]. E S Moreira, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet. 2000 Feb;24(2):163-6. [Content Brief]

[6]. Emilia Servián-Morilla, et al. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med. 2016 Nov 2;8(11):1289-1309. [Content Brief]

[7]. Emma M Clement, et al. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol. 2008 Jan;65(1):137-41. [Content Brief]

[8]. G Tasca, et al. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Neurology. 2013 Mar 5;80(10):963-5. [Content Brief]

[9]. Gulsum Kayman-Kurekci, et al. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord. 2014 Jul;24(7):624-33. [Content Brief]

[10]. Hulya Gundesli, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet. 2010 Dec 10;87(6):834-41. [Content Brief]

[11]. Jodi Warman Chardon, et al. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 Dec;88(6):558-64. [Content Brief]

[12]. John Vissing, et al. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain. 2016 Aug;139(Pt 8):2154-63. [Content Brief]

[13]. John Vissing, et al. POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. Ann Neurol. 2019 Dec;86(6):832-843. [Content Brief]

[14]. Keren J Carss, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. [Content Brief]

[15]. L E Lim, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995 Nov;11(3):257-65. [Content Brief]

[16]. L Palenzuela, et al. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology. 2003 Aug 12;61(3):404-6. [Content Brief]

[17]. M Brockington, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. [Content Brief]

[18]. Matthew B Harms, et al. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012 Mar;71(3):407-16. [Content Brief]

[19]. Natássia M Vieira, et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014 Aug 1;23(15):4103-10. [Content Brief]

[20]. Nina Bögershausen, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):181-90. [Content Brief]

[21]. Patrick Frosk, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet. 2002 Mar;70(3):663-72. [Content Brief]

[22]. Pervin Dinçer, et al. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. Neuromuscul Disord. 2003 Dec;13(10):771-8. [Content Brief]

[23]. 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]

[24]. R Bashir, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998 Sep;20(1):37-42. [Content Brief]

[25]. Roland F R Schindler, et al. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. J Clin Invest. 2016 Jan;126(1):239-53. [Content Brief]

[26]. S L Roberds, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 1994 Aug 26;78(4):625-33. [Content Brief]

[27]. S Noguchi, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 3;270(5237):819-22. [Content Brief]

[28]. Sandra Coppens, et al. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. [Content Brief]

[29]. V Nigro, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet. 1996 Oct;14(2):195-8. [Content Brief]

[30]. Véronique Bolduc, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. [Content Brief]

[31]. Vincenzo Nigro, et al. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol. 2011 Oct;24(5):429-36. [Content Brief]

[32]. Yukari Endo, et al. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol Genet. 2015 Dec 10;1(4):e33. [Content Brief]