TY - JOUR T1 - A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region JF - Journal of Medical Genetics JO - J Med Genet SP - 140 LP - 143 DO - 10.1136/jmg.36.2.140 VL - 36 IS - 2 AU - Ben C J Hamel AU - Pieter Wesseling AU - Willy O Renier AU - Bellinda van den Helm AU - Hans-Hilger Ropers AU - Hannie Kremer AU - Edwin C M Mariman Y1 - 1999/02/01 UR - http://jmg.bmj.com/content/36/2/140.abstract N2 - We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at θ=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers. ER -