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

• Authors: VONDRÁČEK Petr; HERMANOVÁ Markéta; VODIČKOVÁ K.; FAJKUSOVÁ Lenka; BLAKELY EL.; HE L.; TURNBULL DM.; TAYLOR RW.; TAJSHARGHI H.
• Year of publication: 2007
• Type: Article in Periodical
• Magazine / Source: Eur J Paediatr Neuro
• MU Faculty or unit: Faculty of Medicine
• Field: Genetics and molecular biology
• Keywords: Muscle biopsy; Mutation analysis
• Description: 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.

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