INVESTIGADORES
ROSSI Malco Damian
artículos
Título:
Involuntary moaning in a Hispanic family with eight affected members
Autor/es:
MARIA GISATULIN; MALCO ROSSI; CLAUDIA PERANDONES; CHRISTINE KLEIN; KATJA LOHMANN; MARCELO MERELLO
Revista:
PARKINSONISM & RELATED DISORDERS
Editorial:
ELSEVIER SCI LTD
Referencias:
Lugar: Amsterdam; Año: 2021
ISSN:
1353-8020
Resumen:
Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.