Analysis of SCN4A gene variation in a Chinese pedigree affected with skeletal muscle sodium channelopathies / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 809-812, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776800
ABSTRACT
OBJECTIVE@#To explore the clinical features of a Chinese pedigree affected with skeletal muscle sodium channelopathies due to variation of SCN4A gene.@*METHODS@#Potential variation of the 24 exons of the SCN4A gene was screened using PCR and Sanger sequencing.@*RESULTS@#Four family members were affected with the disease in an autosomal dominant inheritance pattern. Three patients had normekalemic periodic paralysis, while 1 showed paramyotonia congenita. Genetic analysis detected a missense variation c.2078T>C (p.Ile693Thr) in exon 13 of the SCN4A gene in the proband and other 3 affected relatives.@*CONCLUSION@#Normokalemic periodic paralysis and paramyotonia congenita can occur in different family members with skeletal muscle sodium channelopathies due to c.2078T>C(p.Ile693Thr) variation of SCN4A gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Músculo Esquelético
/
Canalopatias
/
Genética
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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