Literature DB >> 27862037

Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Patrick R Blackburn1, Duygu Selcen2, Jessica L Jackson1, Kimberly J Guthrie1, Margot A Cousin3, Nicole J Boczek3, Kristin E Clift1, Eric W Klee3,4, Elliot L Dimberg5, Paldeep S Atwal1.   

Abstract

Entities:  

Keywords:  ANO5; LGMD2L; anoctamin-5; limb-girdle muscular dystrophy-2L; muscular dystrophy; next generation sequencing

Mesh：

Substances：

Year:  2017        PMID： 27862037     DOI： 10.1002/mus.25471

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


× No keyword cloud information.
  3 in total

1.  First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features.

Authors:  Bolin Hu; Li Xiong; Yibiao Zhou; Xiaoqing Lu; Qianqian Xiong; Qing Liu; Xueliang Qi; Weijiang Ding
Journal:  Medicine (Baltimore)       Date:  2018-09       Impact factor: 1.817

2.  Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.

Authors:  Ivana F Audhya; Antoinette Cheung; Shelagh M Szabo; Emma Flint; Conrad C Weihl; Katherine L Gooch
Journal:  J Neuromuscul Dis       Date:  2022

Review 3.  ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.

Authors:  Jon Christiansen; Anne-Katrin Güttsches; Ulrike Schara-Schmidt; Matthias Vorgerd; Christoph Heute; Corinna Preusse; Werner Stenzel; Andreas Roos
Journal:  Genes Dis       Date:  2022-02-14
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.