p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-021-05537-z.pdf
Reference17 articles.
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3. Fournier E, Viala K, Gervais H, Sternberg D, Arzel-Hézode M, Laforêt P et al (2006) Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 60(3):356–365
4. Valaperta R, Lombardi F, Cardani R, Fossati B, Brigonzi E, Merli I et al (2015) Development and validation of a new molecular diagnostic assay for detection of myotonic dystrophy type 2. Genet Test Mol Biomarkers 19(12):703–9
5. Galimberti V, Tironi R, Lerario A, Scali M, Del Bo R, Rodolico C et al (2020) Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy. Eur J Neurol 27:709–715
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1. Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review;Heliyon;2024-04
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