Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

doi:10.1007/s00415-009-5219-y

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Article

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Journal of neurology - 1 Nov 2009

Oba-Shinjo Sueli M, da Silva Roseli, Andrade Fernanda G, Palmer Rachel E, Pomponio Robert J, Ciociola Kristina M, S Carvalho Mary, Gutierrez Paulo S, Porta Gilda, Marrone Carlo D, Munoz Verônica, Grzesiuk Anderson K, Llerena Juan C, Berditchevsky Célia R, Sobreira Claudia, Horovitz Dafne, Hatem Thamine P, Frota Elizabeth R C, Pecchini Rogerio, Kouyoumdjian João Aris, Werneck Lineu, Amado Veronica M, Camelo José S, Mattaliano Robert J, Marie Suely K N

Abstract excerpt

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A broad range of studies have been published focusing on Pompe patients from different countries, but none from Brazil. We investigated 41 patients with either infantile-onset (21 cases) or...

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PMID: 19588081
DOI: 10.1007/s00415-009-5219-y

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