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2004 1
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2023 1
2024 1

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Page 1
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R. Marinella G, et al. Genes (Basel). 2023 Jun 28;14(7):1363. doi: 10.3390/genes14071363. Genes (Basel). 2023. PMID: 37510268 Free PMC article. Review.
One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy. METHODS: To better characterize the phenotypic spectrum of CACNA1S myopathy, we conducted a systematic review of cases in the literature through three electron …
One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy. METHODS: To better …
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.
Leung DG. Leung DG. J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25. J Neurol. 2017. PMID: 27888415 Free PMC article. Review.
We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature datab …
We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging s …
Treatment for swallowing difficulties (dysphagia) in chronic muscle disease.
Hill M, Hughes T, Milford C. Hill M, et al. Cochrane Database Syst Rev. 2004;(2):CD004303. doi: 10.1002/14651858.CD004303.pub2. Cochrane Database Syst Rev. 2004. PMID: 15106246 Updated. Review.
We identified seven case series reporting the results of surgical intervention for moderate to severe dysphagia, and one reporting on the outcome of feeding advice and enteral feeding in children with a congenital myopathy. MAIN RESULTS: No studies were found that f …
We identified seven case series reporting the results of surgical intervention for moderate to severe dysphagia, and one reporting on the ou …