Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness-Reference-Cited by-同舟云学术

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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Published:2017-11-17 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Johnson Katherine,Töpf Ana,Bertoli Marta,Phillips Lauren,Claeys Kristl G.,Stojanovic Vidosava Rakocevic,Perić Stojan,Hahn Andreas,Maddison Paul,Akay Ela,Bastian Alexandra E.,Łusakowska Anna,Kostera-Pruszczyk Anna,Lek Monkol,Xu Liwen,MacArthur Daniel G.,Straub Volker

Funder

Sanofi Genzyme

Ultragenyx

Kurt+Peter Foundation

LGMD2I Research Fund

Samantha J Brazzo Foundation

LGMD2D Foundation

Muscular Dystrophy UK

Coalition to Cure Calpain 3

National Human Genome Research Institute

National Eye Institute

National Heart, Lung, and Blood Institute

MDA/AANEM Development Grant

Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0722-1.pdf

Reference36 articles.

1. Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148:671–6.

2. Schuller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C:80–8.

3. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267–88.

4. Martiniuk F, Chen A, Mack A, et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998;79:69–72.

5. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999;7:713–6.

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