Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

Paulo Ribeiro NóbregaJorge Luiz de Brito de SouzaRebeca Bessa MaurícioAnderson Rodrigues Brandão de PaivaDaniel Aguiar DiasClara Gontijo CameloEdmar ZanotelliDavid SchlesingerPedro Braga-NetoCristiane Araujo Martins Moreno

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)

We raise the need for further studies regarding the role of thin filament proteins in the central nervous system and for a systematic cognitive assessment of congenital myopathy patients.

Keyphrases

end stage renal disease
late onset
chronic kidney disease
newly diagnosed
peritoneal dialysis
prognostic factors
patient reported