OBJECTIVE
To report the clinical and pathological characteristics of one patient with glycogen storage disease IV (Anderson disease).
METHODS
The patient was received detailed clinical examinations, ultrasound, electromyography, head MRI and muscle biopsy.
RESULTS
The onset of the 22 years old male
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented