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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.

Original publication

DOI

10.1055/s-2004-821084

Type

Journal article

Journal

Neuropediatrics

Publication Date

08/2004

Volume

35

Pages

224 - 229

Keywords

Adolescent, Adult, Body Height, Child, Contracture, Humans, Intellectual Disability, Joint Instability, Muscular Dystrophies, Pedigree, Respiratory Insufficiency, Spinal Diseases