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[Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].

Revista de neurologia - 1 Jan 2000

Castro-Gago M, Eirís-Puñal J, Rodríguez-Núñez A, Pintos-Martínez E, Benlloch-Marín T, Barros-Angueira F

Abstract excerpt

INTRODUCTION: Type II glycogenosis is a glycogen storage disease inherited as an autosomal recessive trait. This molecular and clinically heterogeneous condition is due to a deficiency in a lysosomal acid 1,4-alpha-glucosidase. OBJECTIVE: To report the clinical, enzymatic and molecular characterization of a mulatto child, born to healthy Dominican mother and Caucasian father, affected by the juvenile phenotype...

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PMID: 10528311

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