Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Enzo Ricci, Giorgio Tasca, G. Tasca, F. Moro, C. Aiello, D. Cassandrini, C. Fiorillo, E. Bertini, C. Bruno, F. M. Santorelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

21 Citazioni (Scopus)

Abstract

Defects in the posttranslational modification of α-dystroglycan (α-DG) have been implicated in clinically distinct dystroglycanopathies that present as congenital muscular dystrophies with multisystem involvement, limb-girdle muscular dystrophies (LGMDs), or a spectrum of intermediate phenotypes. Recently, mutations in ISPD, encoding the isoprenoid synthase domain containing protein, have been described in Walker-Warburg syndrome and muscle-eye-brain disease, 2 typical dystroglycanopathies.
Lingua originaleEnglish
pagine (da-a)963-965
Numero di pagine3
RivistaNeurology
Volume80
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • ISPD gene
  • LGMD

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