A Korean Family of Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel (R1239G)
Journal of Korean Medical Science
;
: 162-165, 2005.
Artigo
em Inglês
| WPRIM
| ID: wpr-163756
ABSTRACT
Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP is due to mutations in a skeletal muscle voltage-dependent calcium-channel the dihydropyridine receptor. We report a 13-yr old boy with HOPP from a family in which 6 members are affected in three generations. Genetic examination identified a nucleotide 3705 C to G mutation in exon 30 of the calcium channel gene, CACNA1S. This mutation predicts a codon change from arginine to glycine at the amino acid position #1239 (R1239G). Among the three known mutations of the CACNA1S gene, the R1239G mutation was rarely reported. This boy and the other family members who did not respond to acetazolamide, showed a marked improvement of the paralytic symptoms after spironolactone treatment.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Arginina
/
Espironolactona
/
Códon
/
Canais de Cálcio
/
Éxons
/
Saúde da Família
/
Análise de Sequência de DNA
/
Estrutura Terciária de Proteína
/
Músculo Esquelético
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2005
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS