Polyglucosan body myopathy: a new case.
We report a 51-yr-old woman with late-onset progressive weakness affecting proximal limb muscles. Muscle biopsy revealed a vacuolar myopathy with accumulation of amylopectin-like polysaccharide resembling the polyglucosan found in type IV glycogenosis and adult-onset polyglucosan body disease. A biochemical study ruled out specific enzymatic defects known to cause storage of this abnormal material. Our case confirms the existence of a 'polyglucosan body myopathy' as a distinct clinicopathological entity in which the biochemical defect is unknown.
Tonin
P
P
Institute of Neurology, University of Verona, Italy.
Tomelleri
G
G
Vio
M
M
Rizzuto
N
N
D004576:Electromyography; D005260:Female; D006801:Humans; D008875:Middle Aged; D009135:Muscular Diseases / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology*; D011134:Polysaccharides / Q000378:metabolism*; D014617:Vacuoles / Q000473:pathology
D011134:Polysaccharides