[McArdle's disease. Apropos of a case]
| Autor: | Jr, Yuste, Beloqui O, De la Peña A, Rodríguez-Rosado R, Ji, Monreal, Prósper F, Prieto J |
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| Rok vydání: | 1999 |
| Předmět: | |
| Zdroj: | Europe PubMed Central |
| ISSN: | 0556-6177 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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