Abstract
Clinical expression of POLG mutations is largely variable. We present a patient with a new mutation in spacer
region of mitochondrial polymerase gamma protein (P765T). The clinical picture is
characterized by the presence of sensory–ataxic neuropathy, ophthalmoplegia, dysarthria
and gastroparesis, which had not been previously observed in ataxia neuropathy spectrum.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Autonomic Neuroscience: Basic and ClinicalAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Biochim. Biophys. Acta. 2009; 1787: 312-319
- The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.Methods. 2010; 51: 364-373
- Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.Hum. Mol. Genet. 2005; 14: 1775-1783
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.Brain. 2006; 129: 1674-1684
- Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.Methods. 2010; 51: 379-384
- Structural insight into processive human mitochondrial dna synthesis and disease-related polymerase mutations.Cell. 2009; 139: 312-324
- Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.Ann. Neurol. 2000; 47: 792-800
- A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy.J. Neurol. 2006; 253: 869-874
- Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.Nat. Genet. 2001; 28: 211-212
- Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Hum Mutat. 2008; 29: E150-72
Article info
Publication history
Published online: July 17, 2012
Accepted:
June 17,
2012
Received in revised form:
June 15,
2012
Received:
November 17,
2011
Identification
Copyright
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
