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Case Reports
. 2021 Aug:89:206-208.
doi: 10.1016/j.parkreldis.2021.03.023. Epub 2021 Mar 26.

Involuntary moaning in a Hispanic family with eight affected members

Maria Gisatulin  1 , Malco Rossi  2 , Claudia Perandones  3 , Christine Klein  1 , Katja Lohmann  1 , Marcelo Merello  4
Affiliations
Case Reports

Involuntary moaning in a Hispanic family with eight affected members

Maria Gisatulin et al. Parkinsonism Relat Disord. 2021 Aug.

Abstract

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.

Keywords: Charcot-Marie-Tooth disease; Exome sequencing; Groaning; Moaning; Parkinson's disease.

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