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Current Molecular Medicine

Editor-in-Chief

ISSN (Print): 1566-5240
ISSN (Online): 1875-5666

Revised Genetic Classification of Limb Girdle Muscular Dystrophies

Author(s): F. Magri, S. Brajkovic, A. Govoni, R. Brusa and G.P. Comi

Volume 14, Issue 8, 2014

Page: [934 - 943] Pages: 10

DOI: 10.2174/1566524014666141010130244

Price: $65

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.

Keywords: Classification, DNAJB6, genetics, isoprenoid synthase domain-containing (ISPD) gene, limb girdle muscular dystrophy, LGMD2R, transportin 3.


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