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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

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DOI

  1. A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

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  2. Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

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  3. Myopathy can be a key phenotype of membrin (GOSR2) deficiency

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  4. Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

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  5. Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

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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