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Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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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.
OriginalsprogEngelsk
TidsskriftJournal of Medical Genetics
Vol/bind48
Udgave nummer11
Sider (fra-til)737-40
Antal sider4
ISSN1468-6244
DOI
StatusUdgivet - 2011

ID: 33278203