Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

Piluso, G; Politano, L; Aurino, S; Fanin, M; Ricci, E; Ventriglia, VM; Belsito, A; Totaro, A; Saccone, V; Topaloglu, H; Nascimbeni, AC; Fulizio, L; Broccolini, A; Canki-Klain, N; Comi, LI; Nigro, G; Angelini, C; Nigro, V

doi:10.1136/jmg.2004.028738

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

Piluso G., Politano L., Aurino S., Fanin M., Ricci E., Ventriglia V., ...More

JOURNAL OF MEDICAL GENETICS, vol.42, no.9, pp.686-693, 2005 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 42 Issue: 9
Publication Date: 2005
Doi Number: 10.1136/jmg.2004.028738
Journal Name: JOURNAL OF MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.686-693
Open Archive Collection: AVESIS Open Access Collection
Ankara University Affiliated: No

Abstract

Background: The limb girdle muscular dystrophies ( LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified and genetic tests are mandatory to distinguish among the forms. Mutations at the calpain 3 locus (CAPN3) cause LGMD type 2A.