Title: | Morphological changes in late onset acid maltase deficient patients with splicing gene mutation |
Journal : | Acta myologica, XXII |
Authors: | Angelini C ; Cenacchi G ; Nascimbeni AC ; Fulizio L |
Material Type: | Article |
Publication Date: | 12/2003 |
Size: | p. 90-96 |
Languages: | English |
Keywords : | acid alpha-glucosidase ; adulthood ; age of disease onset ; case studies ; caveolin 3 ; clinical presentation ; differential diagnosis ; dystrophin ; elderly people ; electron microscopy ; female ; glycogen ; Golgi apparatus ; immunohistochemistry ; lysosomes ; male ; morphology ; muscle biopsies ; photographies ; Pompe disease ; skeletal muscle ; splicing ; vacuoles ; young adults |