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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

John F Staropoli, Winnie Xin, Rosemary Barone, Susan L Cotman* and Katherine B Sims*

BMC Medical Genetics 2012, 13:50  doi:10.1186/1471-2350-13-50

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