Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations
This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome.
Original languageEnglish
JournalJournal of Medical Genetics
Volume48
Issue number11
Pages (from-to)737-40
Number of pages4
ISSN1468-6244
DOIs
Publication statusPublished - 2011

    Research areas

  • Blotting, Western, Child, Codon, Nonsense, Consanguinity, DNA Mutational Analysis, Electron Transport, Electron Transport Complex I, Female, Fibroblasts, Genetic Complementation Test, Genome-Wide Association Study, Homozygote, Humans, Leigh Disease, Mitochondria, Mitochondrial Proteins, Muscles, Oligonucleotide Array Sequence Analysis

ID: 33278203