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Correlating phenotype and genotype in the familial hypokalaemic periodic paralysis / 中华神经科杂志
Chinese Journal of Neurology ; (12)2000.
Artículo en Chino | WPRIM | ID: wpr-543155
ABSTRACT
Objective To inquire into the location of the relevant gene mutations in the Chinese familial hypokalaemic periodic paralysis, and to specify the correlation between the genotype and the clinical features of this disease. Methods Target-exon PCR and DNA direct sequencing were used to research the mutations in the CACNA1S, SCN4A, and KCNE3 genes of 14 familial hypokalaemic periodic paralysis probands. If a positive member was found, the other members of his (her) family must be inspected with the sequencing method. Results The probands of 3 families showed the known correlating mutations of hypokalaemic periodic paralysis, which were R1239H mutations in the CACNA1S in 1 family and R672H mutations in the SCN4A in the other 2 families. In addition, the differences of the age of onset, the responsibility to the treatment with acetazolamide and penetrance were found between the CACNA1S R1239H and SCN4A R672H mutations. Conclusions SCN4A R672H and CACNA1S R1239H mutations exist in the Chinese familial hypokalaemic periodic paralysis. Differences of the clinical features exist, resulting from these 2 kinds of mutations.

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Chino Revista: Chinese Journal of Neurology Año: 2000 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Chino Revista: Chinese Journal of Neurology Año: 2000 Tipo del documento: Artículo