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

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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
Citation
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.
Related projects:	Molecular basis of cell and tissue regulations