p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Author:

Kroos Marian A,Mullaart Reinier A,Van Vliet Laura,Pomponio Robert J,Amartino Hernan,Kolodny Edwin H,Pastores Gregory M,Wevers Ron A,Van der Ploeg Ans T,Halley Dicky J J,Reuser Arnold J J

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Hirschhorn R, Reuser AJJ : Glycogen Storage Disease Type II (GSDII); in Scriver CR, Beaudet AL, Sly WS, Valle D (eds):: The Metabolic and Molecular Bases of Inherited Disease. NY: McGraw-Hill, 2001, pp 3389–3420.

2. Engel AG, Hirschhorn R, Huie ML : Acid maltase deficiency; in Engel AG, Franzini-Armstrong C (eds): Myology. NY: McGraw-Hill, 2004, pp 1559–1586.

3. Suzuki Y, Tsuji A, Omura K et al: Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement. Clin Genet 1988; 33: 376–385.

4. Pipo JR, Feng JH, Yamamoto T et al: New GAA mutations in Japanese patients with GSDII (pompe disease). Pediatr Neurol 2003; 29: 284–287.

5. Tajima Y, Matsuzawa F, Aikawa S et al: Structural and biochemical studies on Pompe disease and a ‘pseudodeficiency of acid alpha-glucosidase’. J Hum Genet 2007; 52: 898–906.

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