Myopathy caused by acid maltase deficiency in an adult

Cartier, L; CEA, JG; Slachevsky, A

Abstract

We report a 46 years old male presenting with tetraparesis and severe respiratory involvement. He had moderately elevated serum creatine phosphokinase values and the electromyography showed myopathic alterations and irritative signs. In the muscle biopsy, a vacuolar myopathy with increased collagen deposits was found. Circulating lymphocytes presented abnormal PAS positive granules in their cytoplasm.

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Título de la Revista: REVISTA MEDICA DE CHILE
Volumen: 123
Número: 6
Editorial: Sociedad Médica de Santiago
Página de inicio: 758
Página final: 761
Idioma: Spanish
Notas: ISI