A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Neuromuscular Disorders - Tập 16 Số 9-10 - Trang 571-582 - 2006
C. Jiménez-Mallebrera1, Maria Antonietta Maioli1, Jihee Kim1, S. Brown1, Lucy Feng1, Anne Katrin Lampe2, Kate Bushby2, Debbie Hicks2, Kevin M. Flanigan3, Carsten G. Bönnemann4, Caroline A. Sewry5,1, Francesco Muntoni1
1Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
2Institute of Human Genetics, University of Newcastle upon Tyne, UK
3Department of Human Genetics, University of Utah, Salt Lake City, UT, USA;
4Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, USA
5Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK

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