Myotonia congenita and myoadenylate deaminase deficiency: case report
Arq. neuropsiquiatr
; 61(2A): 262-264, Jun. 2003.
Article
en En
| LILACS
| ID: lil-339498
Biblioteca responsable:
BR1.1
ABSTRACT
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
Texto completo:
1
Índice:
LILACS
Asunto principal:
AMP Desaminasa
/
Miotonía Congénita
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Arq. neuropsiquiatr
Asunto de la revista:
NEUROLOGIA
/
PSIQUIATRIA
Año:
2003
Tipo del documento:
Article