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Lookup NU author(s): Dr Anne Lampe, Professor Volker StraubORCiD, Dr Michael Wright, Dr Sara Brown, Emerita Professor Katherine Bushby
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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.
Author(s): Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Jones DH, Voit T, Bushby K, Muntoni F
Publication type: Article
Publication status: Published
Journal: Neuropediatrics
Year: 2004
Volume: 35
Issue: 4
Pages: 224-229
ISSN (print): 0174-304X
ISSN (electronic): 1439-1899
Publisher: Georg Thieme Verlag
URL: http://dx.doi.org/10.1055/s-2004-821084
DOI: 10.1055/s-2004-821084
PubMed id: 15328561
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