A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.

Sadr, Zahra; Rohani, Mohammad; Jamali, Payman; Alavi, Afagh

Sadr, Zahra; Rohani, Mohammad; Jamali, Payman; Alavi, Afagh.

Afiliación

Sadr Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Rohani M; Department of Neurology, Hazrat Rasool Hospital, School of Medicines, Iran University of Medical Sciences, Tehran, Iran.
Jamali P; Genetic Counseling Center, Shahroud, Iran.
Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Int J Neurosci ; : 1-6, 2023 Sep 15.

Article en En | MEDLINE | ID: mdl-37712628

Palabras clave

ERLIN2; MFN2; charcotmarietooth disease type 2A (CMT2A); spastic paraplegia 18 (SPG18); whole exome sequencing (WES)

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Int J Neurosci Año: 2023 Tipo del documento: Article País de afiliación: Irán

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google