Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 36, Issue 5, Pages 787-794Publisher
SPRINGER
DOI: 10.1007/s10545-012-9541-7
Keywords
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Funding
- Erasmus MC Revolving Fund (NAMEvdB) [1054]
- ZonMw-Dutch organization for healthcare research and innovation of care [152001005]
- Prinses Beatrix Fonds [OP07-08]
- European Union [201678]
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Pompe disease is a lysosomal storage disorder caused by acid alpha-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients' perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment biopsies of 22 patients with different phenotypes to investigate to what extent fiber-type distribution and fiber-type-specific damage contribute to clinical diversity. Pompe patients have the same fiber-type distribution as healthy persons, but among nonclassic patients with the same GAA mutation (c.-32-13T > G), those with early onset of symptoms tend to have more type 2 muscle fibers than those with late-onset disease. Further, it seemed that the older, more severely affected classic infantile patients and the wheelchair-bound and ventilated nonclassic patients had a greater proportion of type 2x muscle fibers. However, as in other diseases, this may be caused by physical inactivity of those patients.
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