A carregar...

Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

A sixth family with autosomal dominantly inherited myokymia and paroxysmal ataxia is described. The syndrome in this family is linked to the recently discovered locus for inherited myokymia and paroxysmal ataxia on the human chromosome 12p, and a missense mutation is shown in the KCNA1 gene. The att...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Lubbers, W J, Brunt, E R, Scheffer, H, Litt, M, Stulp, R, Browne, D L, van Weerden, T W
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC486077/
https://ncbi.nlm.nih.gov/pubmed/7561920
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!