Go to:
Logótipo
Você está em: Start > Publications > View > SANDO: Two novel mutations in POLG1 gene
Map of Premises
Principal
Publication

SANDO: Two novel mutations in POLG1 gene

Title
SANDO: Two novel mutations in POLG1 gene
Type
Article in International Scientific Journal
Year
2006
Authors
Gago, MF
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Rosas, MJ
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Joana Guimaraes
(Author)
FMUP
View Personal Page You do not have permissions to view the institutional email. Search for Participant Publications View Authenticus page View ORCID page
Ferreira, M
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Vilarinho, L
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Castro, L
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Carpenter, S
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Journal
Vol. 16
Pages: 507-509
ISSN: 0960-8966
Publisher: Elsevier
Other information
Authenticus ID: P-004-JA4
Abstract (EN): Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLGI or more rarely in the C10orf2 (twinkle-helicase) gene. We report a 44-year-old man with SANDO who harboured two novel mutations (P648R/R807C) in the POLGI gene.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 3
Documents
We could not find any documents associated to the publication.
Related Publications

Of the same journal

TTR exon scanning in peripheral neuropathies (1995)
Article in International Scientific Journal
de Fatima Torres, M; Almeida, MR; Saraiva, MJ
TTR EXON SCANNING IN PERIPHERAL NEUROPATHIES (1995)
Article in International Scientific Journal
TORRES, MD; ALMEIDA, MDR; SARAIVA, MJ
Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations (2011)
Article in International Scientific Journal
Mariana Ferreira; Teresinha Evangelista; Ligia S Almeida; Joao Martins; Maria Carmo Macario; Esmeralda Martins; Ana Moleirinho; Luisa Azevedo; Laura Vilarinho; Filippo M Santorelli
Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America (2011)
Article in International Scientific Journal
Luis Vernengo; Jorge Oliveira; Martin Krahn; Emilia Vieira; Rosario Santos; Luisa Carrasco; Luis Negrao; Ana Panuncio; France Leturcq; Veronique Labelle; Elsa Bronze da Rocha; Rosario Mesa; Carlos Pizzarossa; Nicolas Levy; Maria Mirta Rodriguez
Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis (2015)
Article in International Scientific Journal
Santos, E; Moreira, I; Coutinho, E; Macedo G; Lopes, C; Lima, JL; Leite, MI

See all (7)

Recommend this page Top
Copyright 1996-2025 © Faculdade de Medicina Dentária da Universidade do Porto  I Terms and Conditions  I Acessibility  I Index A-Z
Page created on: 2025-07-21 at 15:24:50 | Privacy Policy | Personal Data Protection Policy | Whistleblowing | Electronic Yellow Book