Advertisement

Limb-Girdle Muscular Dystrophy Type 2K

  • Corrado Angelini
Chapter

Abstract

LGMD2K is caused by mutations in the POMT1 gene, encoding for O-mannosyl-transferase-1 protein (Table 16.1), and results from defective glycosylation of alpha-dystroglycan. This disorder represents the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The phenotype is characterized by weakness apparent after walking is achieved; mental retardation and mild brain anomalies are variable. The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy with brain and eye anomalies, previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation.

Keywords

Dilated cardiomyopathy Dystroglycanopathy Limb Girdle Mutation 

References

  1. 1.
    Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. 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;15:271–5.PubMedCrossRefGoogle Scholar
  2. 2.
    Bello L, Melacini P, Pezzani R, D’Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012;20:1234–9.PubMedCentralPubMedCrossRefGoogle Scholar
  3. 3.
    Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerceker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. Neuromuscul Disord. 2003;13:771–8.PubMedCrossRefGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Corrado Angelini
    • 1
  1. 1.Dipartimento di NeuroscienzeUniversità di PadovaPadovaItaly

Personalised recommendations