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Muscle Nerve. 2006 Apr;33(4):571-4.

Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?

Author information

1
North Shore University Hospital, New York University School of Medicine, Manhasset, New York, USA. aeslonim@optonline.net

Abstract

Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from a young age showed an unusually benign course. Muscle biopsy from the older brother, which showed characteristic vacuolar glycogen accumulation at age 2, had reverted to normal by age 16. A muscle biopsy from the younger brother was normal at 5 years. It is uncertain whether this anomalous evolution was spontaneous (nature) or due to the symptomatic therapy (nurture), but NET should be considered in patients with GSD-IIb until enzyme replacement or gene therapy become generally available.

PMID:
16320310
DOI:
10.1002/mus.20473
[Indexed for MEDLINE]

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