Data di Pubblicazione:
2014
Citazione:
Revised genetic classification of limb girdle muscular dystrophies / F. Magri, S. Brajkovic, A. Govoni, R. Brusa, G.P. Comi. - In: CURRENT MOLECULAR MEDICINE. - ISSN 1566-5240. - 14:8(2014 Oct 10), pp. 934-943. [10.2174/1566524014666141010130244]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Classification; DNAJB6; Genetics; Isoprenoid synthase domain-containing (ISPD) gene; LGMD2R; Limb girdle muscular dystrophy; Transportin 3
Elenco autori:
F. Magri, S. Brajkovic, A. Govoni, R. Brusa, G.P. Comi
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