Analysis of mutations and correlation with clinical illness has been greatly expanded by the analysis of a number of families with both phosphofructokinase (PFK) and acid maltase deficiencies. Plans for gene therapy of acid maltase deficiency have moved forward in several areas. A number of metabolic/genetic myopathies have been diagnosed.

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National Institute of Arthritis and Musculoskeletal and Skin Diseases
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Raben, N; Roberts, A; Plotz, P H (2007) Role of autophagy in the pathogenesis of Pompe disease. Acta Myol 26:45-8
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