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

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...

Topics

• Codon
• Codon, Terminator
• Disease Progression
• Glucan 1,4-alpha-Glucosidase
• Glycogen Storage Disease Type II
• Heterozygote
• Humans
• Infant
• Male
• Muscle Proteins
• Muscle, Skeletal
• Phenotype
• Point Mutation
• alpha-Glucosidases