The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

Marina Fanin, Anna Chiara Nascimbeni, Luigi Fulizio, Corrado Angelini

Research output: Contribution to journalArticle

60 Citations (Scopus)

Abstract

Limb-girdle muscular dystrophy 2A (LGMD2A) is considered to be the most frequent LGMD. Our study surveyed an area in northeastern Italy where an almost complete ascertainment was possible. To identify LGMD2A patients we used a new diagnostic approach, including several molecular and biochemical methods. In 84 screened patients from northeastern Italy, we identified 39 LGMD2A patients, the prevalence of LGMD2A being 9.47 per million. In the Venezia district it appears higher than in other districts of the Veneto region, and in the Friuli region it is three times higher than in Veneto, due to the recurrence of single mutation. Haplotype analysis suggested a founder effect. The population from Venezia and Friuli has a higher risk of being heterozygote for these two mutant alleles than people from the rest of northeastern Italy. Our results indicate that LGMD2A is one of the most frequent autosomal recessive disorders, thus finding its molecular characterization becoming increasingly important.

Original languageEnglish
Pages (from-to)218-224
Number of pages7
JournalNeuromuscular Disorders
Volume15
Issue number3
DOIs
Publication statusPublished - Mar 2005

Fingerprint

Italy
Founder Effect
Heterozygote
Haplotypes
Alleles
Limb-girdle muscular dystrophy type 2A
Recurrence
Mutation
Population

Keywords

  • Calpain-3
  • Genetic epidemiology
  • LGMD2A
  • Limb-girdle muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. / Fanin, Marina; Nascimbeni, Anna Chiara; Fulizio, Luigi; Angelini, Corrado.

In: Neuromuscular Disorders, Vol. 15, No. 3, 03.2005, p. 218-224.

Research output: Contribution to journalArticle

Fanin, M, Nascimbeni, AC, Fulizio, L & Angelini, C 2005, 'The frequency of limb girdle muscular dystrophy 2A in northeastern Italy', Neuromuscular Disorders, vol. 15, no. 3, pp. 218-224. https://doi.org/10.1016/j.nmd.2004.11.003
Fanin, Marina ; Nascimbeni, Anna Chiara ; Fulizio, Luigi ; Angelini, Corrado. / The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. In: Neuromuscular Disorders. 2005 ; Vol. 15, No. 3. pp. 218-224.
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