Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa
Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY
Mol Genet Metab. 2017. 122(3):108-116.
Preliminary results of a longitudinal study assessing in patients with glycogen storage disease type III (GSDIII) evolution of MFM scores, timed tests, Purdue pegboard test, and handgrip strength. Thriteen patients aged 13 to 56 ans where foolowed during 5 to 9 years.
MFM scores in the population declined after the age of 35.
Keywords: Debranching enzyme deficiency; Glycogen storage disease type III; Metabolic myopathy; Outcome measures
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