Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts-Reference-Cited by-同舟云学术

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

Published:2009-12 Issue:4 Volume:98 Page:378-382
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Cameron Jessie M.,Levandovskiy Valeriy,MacKay Nevena,Utgikar Rucha,Ackerley Cameron,Chiasson David,Halliday William,Raiman Julian,Robinson Brian H.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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3. The incidence of congenital heart disease;Hoffman;Journal of the American College of Cardiology,2002

4. Deficiency of the iron–sulfur clusters of mitochondrial reduced nicotinamide–adenine dinucleotide–ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis;Moreadith;The Journal of Clinical Investigation,1984

5. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia;Robinson;Pediatric Research,1990

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