A K Lampe
Affiliation: University of Newcastle
- Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcomaA K Lampe
Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Arch Dis Child 87:444-5. 2002..His sister has an optic pathway glioma. Fluorescence in situ hybridisation confirmed a submicroscopic deletion at 17q11.2. New evidence suggests an increased malignancy frequency in microdeletion cases...
- Collagen VI related muscle disordersA K Lampe
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ
J Med Genet 42:673-85. 2005..Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders...
- Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescueD Hicks
Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
Brain 132:147-55. 2009..Further work is needed on the relationship of PTP dysregulation with UCMD pathology...
- Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathyA K Lampe
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
J Med Genet 42:108-20. 2005..BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures. UCMD is an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity...
- A refined diagnostic algorithm for Bethlem myopathyD Hicks
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, Great Britain
Neurology 70:1192-9. 2008..Unlike UCMD, BM is difficult to diagnose because of its clinical overlap with other contractural phenotypes and the lack of sensitivity of standard muscle biopsy immunohistochemical diagnostic techniques...
- A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutationsC Jimenez-Mallebrera
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
Neuromuscul Disord 16:571-82. 2006..In contrast, immunohistochemical analysis of skin biopsies may not always reveal an underlying collagen VI defect...
- Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe
Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Hum Mutat 29:809-22. 2008....
- The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG Turner
Hunter Genetics and University of Newcastle, New South Wales, Australia
Clin Genet 65:226-32. 2004..Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females...