Lookup NU author(s): Professor Doug Turnbull,
Professor Robert Taylor
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
We report a sporadic case of congenital muscular dystrophy (CMD) in a 13-year-old girl with early manifestation of muscle weakness and hypotonia, severe contractures, bulbar syndrome, progressive external ophtalmoplegia, and white matter changes on magnetic resonance imaging (MRI) of the brain, but no mental defect. Serum creatine kinase (CK) level was normal. Muscle biopsy revealed a dystrophic picture with a prominent inflammatory infiltrate mimicking inflammatory myopathy-typical histological findings in CMD. Immunostaining showed normal expression of merosin, α and β-dystroglycans. Mutation analyses of calpain3, dysferlin, and SEPN1 genes were negative. An electron microscopy revealed the accumulation of abnormally enlarged mitochondria located under the sarcolemma. Measurement of respiratory chain enzyme activities did not reveal any biochemical defect and mitochondrial genetic studies, including sequencing of the entire mitochondrial genome, were unremarkable. Phenotypic presentation of our patient is very unusual and differs considerably from other CMD variants. © 2007 European Paediatric Neurology Society.
Author(s): Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Blakely EL, He L, Turnbull DM, Taylor RW, Tajsharghi H
Publication type: Article
Publication status: Published
Journal: European Journal of Paediatric Neurology
ISSN (print): 1090-3798
ISSN (electronic): 1532-2130
Publisher: Elsevier Ltd
PubMed id: 17395506
Altmetrics provided by Altmetric