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

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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) identifier identifier identifier

  • 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
  • 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.