Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)-Reference-Cited by-同舟云学术

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Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

Published:2009-12 Issue:12 Volume:1792 Page:1109-1112
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Poulton J.,Hirano M.,Spinazzola A.,Arenas Hernandez M.,Jardel C.,Lombès A.,Czermin B.,Horvath R.,Taanman J.W.,Rotig A.,Zeviani M.,Fratter C.

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference53 articles.

1. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion;Hakonen;Brain,2007

2. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky;Nikali;Hum. Mol. Genet.,2005

3. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion;Sarzi;Ann. Neurol.,2007

4. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations;Ostergaard;Brain,2007

5. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness;Carrozzo;Brain,2007

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1. A novel homozygous mutation, c.662_672del, in DGUOK gene causing mitochondrial DNA depletion syndrome of type hepatocerebral – A case report;Clinics and Research in Hepatology and Gastroenterology;2024-04

2. Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency;Neuromuscular Disorders;2020-07

3. Nuclear genetic disorders of mitochondrial DNA gene expression;The Human Mitochondrial Genome;2020

4. Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far;Frontiers in Genetics;2018-12-21

5. NovelTK2mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome;Neurology Genetics;2016-09-14

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