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PedAM

Pediatric Disease Annotations & Medicines




Disease scoliosis
Phenotype C0034088|pulmonary insufficiency
Sentences 1
PubMedID- 22915887 The copy number of this weakly expressed homolog may be an important determinant of the severity of the disease.3 consequently, sma can display various degrees of skeletal muscle atrophy with progressive muscle weakness of the limbs and trunk, pulmonary insufficiency due to scoliosis and chest wall muscle weakness, autonomic dysfunction, and dysphagia, resulting in severe physical disability.

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