A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2

Glycogenosis II (GSDII) is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid alpha-glucosidase and subsequent lysosomal accumulation of glycogen in skeletal, cardiac and smooth muscles. The late-onset form is characterized by wide variability of the phenotypical spe...

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Bibliographic Details
Main Authors: Cotelli, Mariasofia, Fontanella, Marco, Padovani, Alessandro, Filosto, Massimiliano
Format: Artigo
Language:Inglês
Published: Medknow Publications & Media Pvt Ltd 2014
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4201016/
https://ncbi.nlm.nih.gov/pubmed/25336838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0974-8237.142310
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