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

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          Abstract

          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.

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          Author and article information

          Journal
          Rev Neurol
          Revista de neurologia
          0210-0010
          0210-0010
          October 21 1999
          : 29
          : 1
          Affiliations
          [1 ] Departamento de Pediatria, Hospital General de Galicia, Santiago de Compostela, España. pdcastro@uscmail.usc.es
          Article
          10528311

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