Description of a very late-onset case of acid maltase deficiency, with slow progression and benign course. Muscle biopsy showed lysosomal accumulation of glycogen, biochemistry confirmed enzyme deficiency. Type II glycogenosis must be considered in the differential diagnosis of late-onset limb-girdle myopathies.
Glycogen storage disease type II diagnosed in a 74-year-old woman
MONGINI, Tiziana Enrica;CHIADO'-PIAT, Loredana;VITTONATTO, ELISA;PALMUCCI, Laura Maria;
2004-01-01
Abstract
Description of a very late-onset case of acid maltase deficiency, with slow progression and benign course. Muscle biopsy showed lysosomal accumulation of glycogen, biochemistry confirmed enzyme deficiency. Type II glycogenosis must be considered in the differential diagnosis of late-onset limb-girdle myopathies.
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