A novel DHTKD1 variant is associated with an atypical form of Charcot-Marie-Tooth disease type 2Q?

Matteoni, E; Canosa, A; Chiò, A; Moglia, C; Gallone, S

Matteoni, E; Canosa, A; Chiò, A; Moglia, C; Gallone, S.

Afiliación

Matteoni E; Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy. enrico.matteoni@unito.it.
Canosa A; Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
Chiò A; Azienda Ospedaliero-Universitaria Città della salute e della Scienza di Torino, SC, Neurologia 1U, Turin, Italy.
Moglia C; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy.
Gallone S; Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.

Acta Neurol Belg ; 124(2): 693-694, 2024 Apr.

Article en En | MEDLINE | ID: mdl-37907797

Asunto(s)

Enfermedad de Charcot-Marie-Tooth; Humanos; Enfermedad de Charcot-Marie-Tooth/genética; Mutación; Fenotipo; Complejo Cetoglutarato Deshidrogenasa

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Límite: Humans Idioma: En Revista: Acta Neurol Belg Año: 2024 Tipo del documento: Article País de afiliación: Italia

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google