2. Academic Validation
  3. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

  • Neurology. 2003 Aug 12;61(3):404-6. doi: 10.1212/01.wnl.0000073984.46546.4f.
L Palenzuela 1,  A L Andreu,  J Gàmez,  M R Vilà,  T Kunimatsu,  A Meseguer,  C Cervera,  I Fernandez Cadenas,  P F M van der Ven,  T G Nygaard,  E Bonilla,  M Hirano
Affiliations

Affiliation

  • 1 Centre d'Investigacions en Bioquímica i Biologia Molecular (CIBBIM), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
PMID: 12913210 DOI: 10.1212/01.wnl.0000073984.46546.4f
Abstract

In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, filamin C, a gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, the authors did not detect any defects in filamin C or its protein product.

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