M.P.2.14 Muscle gene expression profile in adult onset acid maltase deficiency
β Scribed by O. Musumeci; M. Aguennouz; C. Rodolico; N. Lanzano; F. Maio; V. Cianci; A. Ciranni; G. Vita; A. Toscano
- Book ID
- 116792973
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 49 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0960-8966
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Nine patients with adult-onset acid maltase deficiency (Pompe's disease) were examined clinically and with computed tomography (CT). The CT scan showed early and severe involvement of the muscles of trunk and thighs, with selective sparing of the tensor fasciae latae, short head of biceps femoris, g
## Abstract A patient with progressive involvement of respiratory function from adultβonset acid maltase deficiency is reported. The decrement in objective and subjective waking and sleeping respiratory variables was significantly reversed by inspiratory muscle training. This training was accomplis