A novel DHTKD1 variant is associated with an atypical form of Charcot-Marie-Tooth disease type 2Q?
Acta Neurol Belg
.
2024 Apr;124(2):693-694.
doi: 10.1007/s13760-023-02419-3.
Epub 2023 Oct 31.
Authors
E Matteoni
1
,
A Canosa
2
3
4
,
A Chiò
2
3
5
,
C Moglia
2
3
,
S Gallone
6
Affiliations
1
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy. enrico.matteoni@unito.it.
2
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
3
Azienda Ospedaliero-Universitaria Città della salute e della Scienza di Torino, SC, Neurologia 1U, Turin, Italy.
4
Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy.
5
Neuroscience Institute of Turin (NIT), Turin, Italy.
6
Clinic Neurogenetic Neuroscience Department, University of Turin, Turin, Italy.
PMID:
37907797
DOI:
10.1007/s13760-023-02419-3
No abstract available
Publication types
Letter
MeSH terms
Charcot-Marie-Tooth Disease* / genetics
Humans
Ketoglutarate Dehydrogenase Complex
Mutation
Phenotype
Substances
DHTKD1 protein, human
Ketoglutarate Dehydrogenase Complex