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Features of mitochondrial diseases in children with progressive intellectual and neurological deterioration

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Between April 1997 and July 2008 a total of 2493 children aged up to 16 years with progressive intellectual and neurological deterioration (PIND) were reported to the British Paediatric Surveillance Unit. An expert group was able to confirm specific diagnoses in only 1047 cases (42%), the most common being neuronal ceroid lipofuscinoses (133 cases), mitochondrial diseases (112), mucopolysaccharidoses (97), gangliosidoses (97) and peroxisomal disorders (65). The features of the mitochondrial diseases have been described (Christopher M Verity and colleagues. Developmental Medicine and Child Neurology 2010;52:434–40; …

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