Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD Academic Article uri icon


  • Abstract| Full Text| Full Text PDF| PubMed| Scopus (34) See all References 1 The study was approved by the Soroka Medical Center Institutional Review Board. All patients had severe failure to thrive with a concordant head circumference (not isolated microcephaly), severe global developmental delay, and coarse face, yet no significant dysmorphism. Although the phenotype differs at some points from the classical form of Pelizaeus-Merzbacher disease (PMD), as suggested by Biancheri et al. and Boespflug-Tanguy et al. in this issue of The …

publication date

  • March 11, 2011