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An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI

Lookup NU author(s): Emeritus Professor Doug Turnbull, Professor Robert Taylor


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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.

Publication metadata

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

Year: 2007

Volume: 11

Issue: 6

Pages: 381-384

ISSN (print): 1090-3798

ISSN (electronic): 1532-2130

Publisher: Elsevier Ltd


DOI: 10.1016/j.ejpn.2007.01.010

PubMed id: 17395506


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