Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome

Mol Genet Metab. 2013 Dec;110(4):493-4. doi: 10.1016/j.ymgme.2013.09.010. Epub 2013 Sep 25.

Authors

Célia Nogueira¹, Jorge Sales Marques, Claudia Nesti, Luisa Azevedo, Martina Di Lullo, M Chiara Meschini, Antonio Orlacchio, Filippo M Santorelli, Laura Vilarinho

Affiliation

¹ Genetics Department, National Institute of Health, INSA, Porto, Portugal.

PMID: 24148156
DOI: 10.1016/j.ymgme.2013.09.010

No abstract available

Keywords: C10orf2; Chromosome 10; MDS; Twinkle; Uniparental disomy.

Publication types

Letter

MeSH terms

Brain / diagnostic imaging
Brain / pathology*
Chromosome Aberrations
Chromosomes, Human, Pair 10 / genetics*
DNA, Mitochondrial / genetics
Humans
Intestinal Pseudo-Obstruction / etiology
Intestinal Pseudo-Obstruction / genetics*
Intestinal Pseudo-Obstruction / pathology
Lactic Acid / blood
Mitochondrial Encephalomyopathies / etiology
Mitochondrial Encephalomyopathies / genetics*
Mitochondrial Encephalomyopathies / pathology
Muscular Dystrophy, Oculopharyngeal
Ophthalmoplegia / congenital
Radiography
Uniparental Disomy / genetics*

Substances

DNA, Mitochondrial
Lactic Acid

Supplementary concepts

Visceral myopathy familial external ophthalmoplegia