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Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

  • Published:2014 Issue: Volume:1 Page:114-123
  • ISSN:2214-4269
  • Container-title:Molecular Genetics and Metabolism Reports
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Lam Christina,Gallo Linda K.,Dineen Richard,Ciccone Carla,Dorward Heidi,Hoganson George E.,Wolfe Lynne,Gahl William A.,Huizing Marjan

Funder

Intramural Research Program

National Human Genome Research Institute

National Institutes of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference27 articles.

1. 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features;Gunay-Aygun;Mol. Genet. Metab.,2005

2. Multiple syndromes of 3-methylglutaconic aciduria;Gibson;Pediatr. Neurol.,1993

3. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature;Wortmann;J. Inherit. Metab. Dis.,2013

4. 3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients;Wortmann;J. Inherit. Metab. Dis.,2013

5. 3-Methylglutaconic aciduria in “optic atrophy plus”;Costeff;Ann. Neurol.,1993

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