| Literature DB >> 16320310 |
Alfred E Slonim1, Linda Bulone, Jennifer Minikes, Arthur P Hays, Sara Shanske, Seiichi Tsujino, Salvatore DiMauro.
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.Entities:
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Year: 2006 PMID: 16320310 DOI: 10.1002/mus.20473
Source DB: PubMed Journal: Muscle Nerve ISSN: 0148-639X Impact factor: 3.217