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Merosin-positive congenital muscular dystrophy

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Merosin-positive congenital muscular dystrophy: neuroimaging findings (Arq Neuropsiquiatr. 2007 Mar;65(1):167-9). Authors are Matta AP Gonsalves Mde C from the Sarah Network of Hospitals for Rehabilitation, Brazil. Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD. To access the full abstract of the article, click here.

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