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Well until age 14;then progress decline in IQ;progressive seizures;myoclonus;wheelchair bound at age 18;hospitalized;rarely speaks;cranial nerves intact;no retinal abnormalities;negative family history;normal EMI scan;normal bone marrow;donor subject is homozygous for a C>A transversion at nucleotide 386 of the NHLRC1 (EPM2B) gene (386C>A) resulting in the substitution of histidine for proline at codon 129 Pro129His (P129H)
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