A SCN4A mutation causing paramyotonia congenita

•We present a well documented case of paramyotonia congenita.•A mutation p.Ser1434Pro in the SCN4A gene was identified.•Predictive algorithms pointed out that this mutation is the cause of the disease. Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2017-12, Vol.27 (12), p.1123-1125
Main Authors: Palma, Carmen, Prior, Carmen, Gómez-González, Clara, Rodríguez-Antolin, Carlos, Martínez-Montero, Paloma, Pérez de Ayala, Lucía, Pascual, Samuel I., Molano Mateos, Jesús
Format: Article
Language:English
Subjects:
Adolescent
Adult
Female
Humans
Male
Middle Aged
Mutation
Myotonic Disorders - genetics
NAV1.4 Voltage-Gated Sodium Channel - genetics
Paramyotonia
Pedigree
SCN4A
Sodium channel
Young Adult
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Summary:•We present a well documented case of paramyotonia congenita.•A mutation p.Ser1434Pro in the SCN4A gene was identified.•Predictive algorithms pointed out that this mutation is the cause of the disease. Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345). It is estimated that more than 20% of patients with suspected myotonia congenita suffer paramyotonia congenita. The two related SCN4A phenotypes exhibit an autosomal dominant inheritance and are the result of mutations that cause an increase in the function of the protein coded by this gene. In this study we present a case of paramyotonia congenita in a family with several affected members and in which a mutation in the SCN4A gene was identified. Evolutionary conservation data and predictive algorithms of pathogenicity allow us to conclude that this DNA variant is the cause of the disease in this family.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2017.09.008