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Published on: July 10, 2017
Involuntary moaning in a Hispanic family with eight affected members
Maria Gisatulin1, Malco Rossi2, Claudia Perandones3
1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
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.
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