Literature DB >> 25528007

Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome?

Sara Simeoni1, Valentina Russo2, Gian Luigi Gigli2, Anna Scalise2.   

Abstract

Entities:  

Keywords:  Calpainopathy; Double trouble; Facioscapulohumeral muscular dystrophy; Limb-girdle muscular dystrophy; Myopathy; Platelet storage pool disease

Mesh：

Substances：

Year:  2014        PMID： 25528007     DOI： 10.1016/j.jns.2014.12.009

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  5 in total

1.  Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Authors:  Babi Ramesh Reddy Nallamilli; Samya Chakravorty; Akanchha Kesari; Alice Tanner; Arunkanth Ankala; Thomas Schneider; Cristina da Silva; Randall Beadling; John J Alexander; Syed Hussain Askree; Zachary Whitt; Lora Bean; Christin Collins; Satish Khadilkar; Pradnya Gaitonde; Rashna Dastur; Matthew Wicklund; Tahseen Mozaffar; Matthew Harms; Laura Rufibach; Plavi Mittal; Madhuri Hegde
Journal:  Ann Clin Transl Neurol       Date:  2018-12-01       Impact factor: 4.511

2.  Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Authors:  Jakub Piotr Fichna; Anna Macias; Marcin Piechota; Michał Korostyński; Anna Potulska-Chromik; Maria Jolanta Redowicz; Cezary Zekanowski
Journal:  Hum Genomics       Date:  2018-07-03       Impact factor: 4.639

3.  A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

Authors:  Patrizia Spadafora; Antonio Qualtieri; Francesca Cavalcanti; Gemma Di Palma; Olivier Gallo; Selene De Benedittis; Annamaria Cerantonio; Luigi Citrigno
Journal:  Int J Mol Sci       Date:  2022-08-11       Impact factor: 6.208

4.  Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report.

Authors:  Sook Joung Lee; Eunseok Choi; Soyoung Shin; Joonhong Park
Journal:  Medicine (Baltimore)       Date:  2020-07-10       Impact factor: 1.817

5.  A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Authors:  Xiao-Dan Lin; Jun-Jie He; Feng Lin; Hai-Zhu Chen; Liu-Qing Xu; Wei Hu; Nai-Qing Cai; Min-Ting Lin; Ning Wang; Zhi-Qiang Wang; Guo-Rong Xu
Journal:  Chin Med J (Engl)       Date:  2018-09-20       Impact factor: 2.628
  5 in total

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