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A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage

✍ Scribed by Dr. Michael R. Rose; Dr. Robin S. Howard; Sally A. Genet; Catherine J. McMahon; Dr. A. Whitfield; Dr. John A. Morgan-Hughes


Book ID
102954266
Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
599 KB
Volume
16
Category
Article
ISSN
0148-639X

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Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4