Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

Clin Dysmorphol. 2007 Apr;16(2):131-134. doi: 10.1097/MCD.0b013e328014715e.

Authors

Eva Morava¹, Ernie M H F Bongers, Wolfram Kress, Lilian Sie, Richard Rodenburg, Lambert van den Heuvel, Han G Brunner

Affiliation

¹ Departments of Pediatrics Human Genetics Child Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Department of Human Genetics, University Biocenter Am Hubland, Wurzburg, Germany.

PMID: 17351361
DOI: 10.1097/MCD.0b013e328014715e

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Body Height*
Child, Preschool
Genome, Human / genetics
Humans
Infant
Karyotyping
Male
Mitochondrial Encephalomyopathies / complications*
Nucleic Acid Hybridization
Optic Atrophy / complications*
Syndrome