1.
J Genet
; 97(5): 1469-1472, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30555096
RESUMO
Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a 'target-gene' approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.