A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.
Clin Neurol Neurosurg
; 237: 108158, 2024 02.
Article
en En
| MEDLINE
| ID: mdl-38330802
ABSTRACT
Charcot-Marie-Tooth disease type 2P (CMT2P; MIM #614436) is a specific type of axonal neuropathy caused by mutations in the LRSAM1 gene, which is a RING-type E3 ubiquitin ligase. CMT2P can be inherited in two ways as an autosomal dominant or autosomal recessive trait. In this report, we describe the clinical characteristics of a family with axonal sensory-motor neuropathy caused by a new variant of the LSRAM1 gene, which is associated with early-onset autosomal dominant CMT2P.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
Límite:
Humans
Idioma:
En
Revista:
Clin Neurol Neurosurg
Año:
2024
Tipo del documento:
Article
País de afiliación:
Italia