Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature-Reference-Cited by-同舟云学术

Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature

Published:2016-10-07 Issue:1 Volume:40 Page:139-149
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Hedberg-Oldfors Carola,Glamuzina Emma,Ruygrok Peter,Anderson Lisa J.,Elliott Perry,Watkinson Oliver,Occleshaw Chris,Abernathy Malcolm,Turner Clinton,Kingston Nicola,Murphy Elaine,Oldfors Anders

Funder

Vetenskapsrådet

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9978-1.pdf

Reference30 articles.

1. Akman HO, Aykit Y, Amuk OC et al (2016) Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 26:16–20

2. Arad M, Maron BJ, Gorham JM et al (2005) Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 352:362–372

3. Boisson B, Laplantine E, Prando C et al (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol 13:1178–1186

4. Brockington M, Torelli S, Prandini P et al (2005) Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet 14:657–665

5. Busch C, Hofmann F, Selzer J, Munro S, Jeckel D, Aktories K (1998) A common motif of eukaryotic glycosyltransferases is essential for the enzyme activity of large clostridial cytotoxins. J Biol Chem 273:19566–19572

Cited by 35 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Glycogen metabolism and structure: A review;Carbohydrate Polymers;2024-12

2. Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle;Neuropathology and Applied Neurobiology;2024-06

3. Identification of novel prognostic targets in acute kidney injury using bioinformatics and next generation sequencing data analysis;2024-03-17

4. Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer;Thyroid®;2024-01-18

5. Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament;Annals of Internal Medicine: Clinical Cases;2023-11-01