Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency
β Scribed by Lyell K. Jones Jr.; Teerin Liewluck; Ralitza H. Gavrilova
- Book ID
- 116795249
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 361 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0960-8966
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π SIMILAR VOLUMES
We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult-onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1( --13T+G) transversion on one alkele; the second allele harbored either a deletion of a T at position 525 in
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