A particular metabolic disorder consisting in the storage of a PAS-positive material in muscle is described. The storage material appears to be a glycosamino(sialo)glycan. The storage is located on the fibrillar structures and/or intermyo-fibrillar, disorganizing the symmetry of the sarcomere and interrupting the continuity of myofilaments. The basal defect, probably consisting of an excessive synthesis of the storage material, might reflect the abolition of a suppressor control mechanism in muscle cell.
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