Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Mais filtros










Filtros aplicados
Base de dados
Intervalo de ano de publicação
1.
Arq. neuropsiquiatr ; 61(2A): 262-264, Jun. 2003.
Artigo em Inglês | LILACS | ID: lil-339498

RESUMO

Approximately 1-2 percent of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental


Assuntos
Humanos , Masculino , Criança , AMP Desaminase , Miotonia Congênita , Biópsia , Músculos , Miotonia Congênita
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...