Diagnosis and discovery in limb-girdle muscular dystrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
http://www.nature.com/articles/nrneurol.2015.230.pdf
Reference10 articles.
1. Ghaoui, R. et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol. http://dx.doi.org/10.1001/jamaneurol.2015.2274 (2015).
2. Fanin, M., Nascimbeni, A. C. & Angelini, C. Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients. Clin. Neuropathol. 33, 179–185 (2014).
3. Fanin, M. et al. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology 72, 1432–1435 (2009).
4. Bonne, G., Leturcq, F. & Ben Yaou, R. Emery–Dreifuss muscular dystrophy. GeneReviews [online] , (2015).
5. Lo, H. P. et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul. Disord. 18, 34–44 (2008).
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1. High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy;Annals of Human Genetics;2022-12-27
2. Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies;Orphanet Journal of Rare Diseases;2022-12-27
3. Variants of CAPN3 cause limb‑girdle muscular dystrophy type 2A in two Chinese families;Experimental and Therapeutic Medicine;2020-11-27
4. Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report;Frontiers in Neurology;2019-06-13
5. An update on diagnostic options and considerations in limb-girdle dystrophies;Expert Review of Neurotherapeutics;2018-08-21
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