Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference31 articles.
1. A systematic review and meta-analysis on the epidemiology of the muscular dystrophies;Mah;Can J Neurol Sci,2016
2. 229th ENMC international workshop: limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017;Straub;Neuromuscul Disord,2018
3. Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: “double trouble” overlapping syndrome?;Simeoni;J Neurol Sci,2015
4. Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients;Bartoli;Muscle Nerve,2014
5. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies;Monies;Hum Genomics,2016
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments;Biomolecules;2024-02-21
2. Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review;Genes;2023-01-12
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