Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

2007 ◽  
Vol 92 (4) ◽  
pp. 325-335 ◽  
Author(s):  
M.E. McCready ◽  
N.L. Carson ◽  
P. Chakraborty ◽  
J.T.R. Clarke ◽  
J.W. Callahan ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ii ◽  
Clinical Assay

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature

2018 ◽  
Vol 31 (3) ◽  
pp. 331-338 ◽  
Author(s):  
Chunyun Li ◽  
Lihua Huang ◽  
Lang Tian ◽  
Jia Chen ◽  
Shentang Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phosphorylase Kinase

AbstractBackground:PHKG2gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due toPHKG2mutation is the second most common GSD IX.Methods:We identified a novel mutation (c.553C>T, p.Arg185X) inPHKG2in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of thePHKG2gene was summarized based on 25 GSD IXc patients withPHKG2mutations.Results:We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12/25) and European (9/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations.Conclusions:This study expands our knowledge of thePHKG2gene mutation spectrum, providing a molecular basis for GSD IXc.

A case of glycogen storage disease type II with double aortic arch

2000 ◽  
Vol 89 (7) ◽  
pp. 884-886 ◽  
Author(s):  
F Akalin ◽  
G Alper ◽  
F Ouztunç ◽  
E KotilogUlu ◽  
S Turan
Keyword(s):  
Aortic Arch ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Double Aortic Arch ◽  
Type Ii

scholarly journals Cloning and Characterization of cDNAs Encoding a Candidate Glycogen Storage Disease Type 1b Protein in Rodents

1998 ◽  
Vol 273 (48) ◽  
pp. 31656-31660 ◽  
Author(s):  
Baochuan Lin ◽  
Borhane Annabi ◽  
Hisayuki Hiraiwa ◽  
Chi-Jiunn Pan ◽  
Janice Yang Chou
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

scholarly journals Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter

2005 ◽  
Vol 11 (6) ◽  
pp. 889-898 ◽  
Author(s):  
Baodong Sun ◽  
Haoyue Zhang ◽  
Luis M. Franco ◽  
Talmage Brown ◽  
Andrew Bird ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Virus Vector ◽  
Type Ii ◽  
Adeno Associated Virus
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