SURF1-associated leigh syndrome: A case series and novel mutations

2012 ◽  
Vol 33 (8) ◽  
pp. 1192-1200 ◽  
Author(s):  
Inn-Chi Lee ◽  
Ayman W. El-Hattab ◽  
Jing Wang ◽  
Fang-Yuan Li ◽  
Shao-Wen Weng ◽  
...  
Keyword(s):  
Case Series ◽  
Leigh Syndrome ◽  
Novel Mutations

The neuroimaging of Leigh syndrome: case series and review of the literature

2016 ◽  
Vol 46 (4) ◽  
pp. 443-451 ◽  
Author(s):  
Eliana Bonfante ◽  
Mary Kay Koenig ◽  
Rahmat B. Adejumo ◽  
Vinu Perinjelil ◽  
Roy F. Riascos
Keyword(s):  
Case Series ◽  
Leigh Syndrome ◽  
Review Of The Literature

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

2009 ◽  
Vol 32 (S1) ◽  
pp. 339-343 ◽  
Author(s):  
E. Quintana ◽  
J. A. Mayr ◽  
M. T. García Silva ◽  
A. Font ◽  
M. A. Tortoledo ◽  
...  
Keyword(s):  
Leigh Syndrome ◽  
Novel Mutations

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

1999 ◽  
Vol 105 (6) ◽  
pp. 560-563 ◽  
Author(s):  
M. Teraoka ◽  
Y. Yokoyama ◽  
S. Ninomiya ◽  
C. Inoue ◽  
S. Yamashita ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Leigh Syndrome ◽  
Novel Mutations ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

2021 ◽  
Vol 12 ◽  
Author(s):  
Hui-ming Yan ◽  
Zhi-mei Liu ◽  
Bei Cao ◽  
Victor Wei Zhang ◽  
Yi-duo He ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Chinese Population ◽  
Novel Mutation ◽  
Case Series ◽  
Myocardial Damage ◽  
Compound Heterozygote ◽  
Novel Mutations ◽  
Mild Phenotype ◽  
Phenotypic Spectrum ◽  
Human Mitochondrial Genome

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs∗42) in GTPBP3. Patient 2 was a compound heterozygote with novel mutations c.544G > T (p. G182X) and c.785A > C (p.Q262P), while patient 3 was a compound heterozygote with a previously reported mutation c.424G > A (p.E142K) and novel mutation c.785A > C (p.Q262P). In conclusion, we first describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counseling of patients with mitochondrial disease.

Atypical Presentations of Leigh Syndrome: A Case Series and Review

2005 ◽  
Vol 32 (5) ◽  
pp. 334-340 ◽  
Author(s):  
Richard J. Huntsman ◽  
D. Barry Sinclair ◽  
Ravi Bhargava ◽  
Alicia Chan
Keyword(s):  
Case Series ◽  
Leigh Syndrome ◽  
Atypical Presentations
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