1.
Eur J Med Genet
; 57(6): 275-8, 2014.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24704789
RESUMEN
Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.