Article
Male Rett phenotypes in T158M and R294X MeCP2-mutations.
Neuropediatrics - 1 Oct 2006
Lundvall M, Samuelsson L, Kyllerman M
Abstract excerpt
We report on three patients with MeCP2 mutation and male Rett phenotypes. Two brothers with T158M mutations and normal karyotype had a severe early onset encephalopathy, progressive microcephaly, severe feeding problems, breathing and sleep disturbances. They died at the ages of 1 year and 8 months, and 3 years and 1 month. This mutation has previously been reported in three males. The phenotypes show a strong...
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