Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy by Alexander B. Willis, Aaron S. Zelikovich, Robert Sufit, Senda Ajroud-Driss, Krista Vandenborne, Alexis R. Demonbreun, Abhinandan Batra, Glenn A. Walter, Elizabeth M. McNally

Subjects: Get full text

Аutosomal recessive limb-girdle muscular dystrophy type 2A: two cases in Ukraine with different age of onset by Yu.H. Antipkin, L.H. Kyrylova, O.O. Miroshnykov, O.O. Yuzva, V.V. Orzheshkovskyi, A.F. Nechay

Subjects: “…limb-girdle muscular dystrophy…”
Get full text

Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy by Guangyu Wang, Lijun Fu, Lining Zhang, Kai Shao, Ying Hou, Tingjun Dai, Pengfei Lin, Chuanzhu Yan, Bing Zhao

Subjects: Get full text

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene by Sergey Nikitin, Evgeniya Melnik, Inna Sharkova, Aysylu Murtazina, Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev

Subjects: “…limb-girdle muscular dystrophy…”
Get full text

Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review by Xuelian Hong, Fengfeng Jiang, Liuqing Wang

Subjects: “…Limb-girdle muscular dystrophy R1/2A…”
Get full text

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) bein... by Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman

Subjects: Get full text

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy by Rui Shimazaki, Yoshihiko Saito, Tomonari Awaya, Narihiro Minami, Ryo Kurosawa, Motoyasu Hosokawa, Hiroaki Ohara, Shinichiro Hayashi, Akihide Takeuchi, Masatoshi Hagiwara, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino

Subjects: Get full text

Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation seque... by Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba

Subjects: Get full text