[McArdle's disease. Apropos of a case]. / Enfermedad de McArdle. A propósito de un caso.
Rev Med Univ Navarra
; 42(1): 29-33, 1998.
Article
em Es
| MEDLINE
| ID: mdl-10420954
ABSTRACT
McArdle's disease (glycogenosis type V) is a metabolic disorder of hydrocarbons, inherited with autosomic recessive pattern. Biochemically is defined by a myophosphorylase deficiency; clinically it is characterized by exercise intolerance, due to the impossibility of providing energetic substrate to the muscle, myalgias and stiffness. We present a case report of a patient with McArdle's disease and we comment the diagnostic procedures and current therapeutic options.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo V
/
Fosforilases
Tipo de estudo:
Etiology_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
Es
Revista:
Rev Med Univ Navarra
Ano de publicação:
1998
Tipo de documento:
Article