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  • 1.
    Vondracek, Petr
    et al.
    Department of Pediatric Neurology, University Hospital and Masaryk University, Brno, Czech Republic.
    Hermanova, Marketa
    Department of Pathology, University Hospital and Masaryk University, Brno, Czech Republic.
    Vodickova, Kristina
    Department of Pediatric Ophtalmology, University Hospital and Masaryk University, Brno, Czech Republic.
    Fajkusova, Lenka
    Department of Molecular Biology and Gene Therapy, University Hospital and Masaryk University, Brno, Czech Republic.
    Blakely, Emma L.
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    He, Langping
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    Turnbull, Douglass M.
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    Taylor, Robert W.
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    Tajsharghi, Homa
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI2007In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 11, no 6, p. 381-384Article in journal (Refereed)
    Abstract [en]

    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, alpha and beta-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.

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