Affiliation: Innsbruck Medical University
- Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann
Department of Paediatrics IV Neonatology, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Austria
Am J Hum Genet 90:201-16. 2012..FKBP14 mutation analysis should be considered in all individuals with apparent kyphoscoliotic type of EDS and normal urinary pyridinoline excretion, in particular in conjunction with sensorineural hearing impairment...
- Uncommon manifestations of neuroborreliosis in childrenMatthias Baumann
Department of Pediatrics, Division of Pediatric Neurology and Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, A 6020 Innsbruck, Austria
Eur J Paediatr Neurol 14:274-7. 2010..Thus, diagnostic work up in children with unusual neurological symptoms should include cerebrospinal fluid studies with determination of the white blood cell count and calculation of the antibody index against B. burgdorferi...
- Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsyBirgit Krabichler
Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria
Ann Hum Genet 76:326-31. 2012..Sequence analysis revealed a novel homozygous missense mutation (p.R94W) in a highly conserved segment of exon 2. This is the second family with PME caused by KCTD7 mutations, hence KCTD7 mutations might be a recurrent cause of PME...