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M.P.2.13 The French Pompe registry: A prospective clinical survey of patients with late onset Pompe disease in France

✍ Scribed by C. Vincitorio; C. Payant; V. Doppler; D. Orlikowski; N. Pellegrini; S. Attarian; J. Pouget; T. Stojkovic; S. Sacconi; C. Desnuelle; F. Zagnoli; L. Feasson; P. Labauge; I. Pénisson-Besnier; M. Minot-Myhe; B. Eymard; P. Laforêt


Book ID
116792972
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
62 KB
Volume
17
Category
Article
ISSN
0960-8966

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## Abstract Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α‐glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late‐onset form of Pompe disease. Molecular genetic analys