Revised genetic classification of limb girdle muscular dystrophies

F. Magri, S. Brajkovic, A. Govoni, R. Brusa, G. P. Comi

Research output: Contribution to journalArticle

Abstract

Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited progressive muscle disorders affecting predominantly the shoulder and pelvic girdle muscles. They present both with autosomal dominant and autosomal recessive patterns of inheritance. Recent development, including results from Next Generation Sequencing technology, expanded the number of recognised forms. Therefore a revised genetic classification that takes into account the novel entities is needed, allowing clinicians and researchers to refer to a common nomenclature for diagnostic and research purposes.

Original languageEnglish
Pages (from-to)934-943
Number of pages10
JournalCurrent Molecular Medicine
Volume14
Issue number8
Publication statusPublished - Mar 1 2014

Keywords

  • Classification
  • DNAJB6
  • Genetics
  • Isoprenoid synthase domain-containing (ISPD) gene
  • LGMD2R
  • Limb girdle muscular dystrophy
  • Transportin 3

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Molecular Medicine

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