Table 2

Clinical presentation in the 6/78 patients with a MECP gene mutation

Patients Sex Clinical data MECP2 mutation Protein domain
Case 1FRTT316 C>TMBD
Case 2FRTT763 C>TTRD
Case 3FRTT763 C>TTRD
Case 4FRTT803delGTRD
Case 5FProgressive encephalopathy of neonatal onset808 C>TTRD
Case 6MNon-progressive encephalopathy of neonatal onset1282 G>AC-ter
  • C-ter: carboxyl-terminal domain.