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Congenital muscular dystrophy with short stature, proximal contractures and distal laxity

Lookup NU author(s): Dr Anne Lampe, Professor Volker Straub, Dr Michael Wright, Dr Sara Brown, Emerita Professor Katherine Bushby

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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.


Publication metadata

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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