Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.
Ann Clin Transl Neurol
; 8(1): 294-299, 2021 01.
Article
em En
| MEDLINE
| ID: mdl-33275839
ABSTRACT
The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported PLEKHG5 mutations. Our results confirm and extend previous findings linking PLEKHG5 mutations to lower motor neuron diseases.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença dos Neurônios Motores
/
Fatores de Troca do Nucleotídeo Guanina
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Ann Clin Transl Neurol
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Espanha