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Neuropediatrics 2004; 35(4): 224-229
DOI: 10.1055/s-2004-821084
Original Article

Georg Thieme Verlag KG Stuttgart · New York

Congenital Muscular Dystrophy with Short Stature, Proximal Contractures and Distal Laxity

E. Mercuri1 , 2 , A. Lampe3 , V. Straub4 , Y. Yuva1 , C. Longman1 , M. Wright3 , S. Brown1 , C. Sewry1 , C. Bonnemann5 , M. Kinali1 , M. Brockington1 , I. Hausser6 , D. Hilton Jones7 , T. Voit4 , K. Bushby3 , F. Muntoni1
  • 1Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, London, UK
  • 2Department of Child Neurology, Catholic University Hospital, Rome, Italy
  • 3Institute of Human Genetics, International Centre for Life, University of Newcastle, Newcastle upon Tyne, UK
  • 4Department of Paediatrics, University of Essen, Essen, Germany
  • 5Division of Neurology, Children's Hospital of Philadelphia, USA
  • 6Electron Microscopic Laboratory, Dept. of Dermatology, University of Heidelberg, Heidelberg, Germany
  • 7Department of Neurology, The Radcliffe Infirmary, Oxford, UK
Further Information

Publication History

Received: October 9, 2003

Accepted after Revision: May 15, 2004

Publication Date:
14 July 2004 (online)

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Abstract

We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation. The expression of collagen VI was confirmed to be normal on muscle biopsies of all 5 patients and in the informative family linkage to any of the three COL6 A loci was excluded. These findings extend the phenotypes within the CMD classification.

Key words

Congenital muscular dystrophy - short stature - menatl retardation - distal laxity

References

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Eugenio Mercuri

Department of Paediatrics & Neonatal Medicine, Imperial College, Hammersmith Hospital

Du Cane Road

London W12 0NN

United Kingdom

Email: e.mercuri@ic.ac.uk