Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia

We aimed to systematically investigate the neuromuscular involvement of individuals with PRUNE mutations who may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype. The complex neurological phenotypes associated with Prune mutations include micr...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Derya Okur, Hülya Sevcan Daimagüler, Ayça Ersen Danyeli, Hasan Tekgül, Haicui Wang, Gilbert Wunderlich, Sebahattin Çırak, Uluç Yiş
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Hacettepe University Institute of Child Health 2019-12-01
coleção:	The Turkish Journal of Pediatrics
Assuntos:	PRUNE creatine kinase exome hyperCkaemia spinal motor neuron
Acesso em linha:	https://turkjpediatr.org/article/view/793
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!