Muscular dystrophy-dystroglycanopathy type A

Definition:

Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. At the most severe end of the clinical spectrum are Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD). These are termed muscular dystrophy-dystroglycanopathy type A (MDDGA), and characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities, which in WWS results in early infantile death.

References:

[1]. Anja von Renesse, et al. POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. J Med Genet. 2014 Apr;51(4):275-82. [Content Brief]

[2]. D Beltran-Valero de Bernabé, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May;41(5):e61. [Content Brief]

[3]. Daniel Beltrán-Valero de Bernabé, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov;71(5):1033-43. [Content Brief]

[4]. Elizabeth Stevens, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013 Mar 7;92(3):354-65. [Content Brief]

[5]. Francesco Muntoni, et al. Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 2008 Oct;5(4):627-32. [Content Brief]

[6]. J van Reeuwijk, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12. [Content Brief]

[7]. Jeroen van Reeuwijk, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 2007 Jul;121(6):685-90. [Content Brief]

[8]. Karen Buysse, et al. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 2013 May 1;22(9):1746-54. [Content Brief]

[9]. 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]

[10]. M Chiara Manzini, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 7;91(3):541-7. [Content Brief]

[11]. Peter B Kang, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Mar 31;84(13):1369-78. [Content Brief]

[12]. R P Cotarelo, et al. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet. 2008 Feb;73(2):139-45. [Content Brief]

[13]. Roberta Biancheri, et al. POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. Arch Neurol. 2006 Oct;63(10):1491-5. [Content Brief]

[14]. Sandrine Vuillaumier-Barrot, et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. [Content Brief]

[15]. Tobias Geis, et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics. 2013 Nov;14(3-4):205-13. [Content Brief]

[16]. Tobias Willer, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May;44(5):575-80. [Content Brief]

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