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.
| Originalsprache | Englisch |
|---|---|
| Zeitschrift | Parkinsonism and Related Disorders |
| Jahrgang | 89 |
| Seiten (von - bis) | 206-208 |
| Seitenumfang | 3 |
| ISSN | 1353-8020 |
| DOIs | |
| Publikationsstatus | Veröffentlicht - 08.2021 |
Fördermittel
This work was supported by the University of Lübeck. The authors do not have any competing interest. MG received a scholarship from the University of Lübeck for her medical thesis (“Promotionsstipendium Exzellenzmedizin”). CK serves as a medical advisor to Centogene for genetic testing reports in the field of movement disorders and dementia, excluding Parkinson's disease. KL received funding from the German Research Foundation, the International Parkinson disease and Movement Disorder Society, and the Damp Foundation. This work was supported by the University of Luebeck.
UN SDGs
Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung
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SDG 3 – Gesundheit und Wohlergehen
Strategische Forschungsbereiche und Zentren
- Querschnittsbereich: Medizinische Genetik
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