肢带肌营养不良的修正遗传分类

Title:Revised Genetic Classification of Limb Girdle Muscular Dystrophies

Volume: 14 Issue: 8

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

Affiliation:

关键词: 分类，DNAJB6，遗传学，类异戊二烯合酶域包含基因，肢带肌营养不良，LGMD2R，转运蛋白3.

摘要: 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.

Cite this article as:

Magri F., Brajkovic S., Govoni A., Brusa R. and Comi G.P., Revised Genetic Classification of Limb Girdle Muscular Dystrophies, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010130244