Limb-girdle muscular dystrophy

Definition:

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital, with the age at onset of symptoms varying from early childhood to late adulthood. The primary distinction is between the autosomal dominant (LGMDD) and the autosomal recessive forms (LGMDR). According to the disease mechanisms, the LGMDs may be grouped as follows: dystrophin-dystroglycan complex defects, membrane defects, enzymatic, sarcomeric, and nuclear lamina.

References:

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[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]

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[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]

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[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]

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[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]

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[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]

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