Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations

There are 14 forms of lipofuscinosis, among them type 6 in its late childhood form is found, it starts between three and eight years with epilepsy, motor disorders, myoclonus, dysarthria, ataxia and neurological regression associated with vision loss and motor skills, and early death. It occurs from...

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Veröffentlicht in:	Revista de neurologiá 2021-11, Vol.73 (10), p.368-371
Hauptverfasser:	Bravo-Oro, A, Saavedra-Alanís, V M, Reyes-Vaca, J G, Espinosa-Tanguma, R, Shiguetomi-Medina, J M, Esmer, C
Format:	Artikel
Sprache:	spa
Schlagworte:	Child, Preschool Female Heterozygote Humans Male Mutation Neuronal Ceroid-Lipofuscinoses - classification Neuronal Ceroid-Lipofuscinoses - diagnosis Neuronal Ceroid-Lipofuscinoses - genetics
Online-Zugang:	Volltext
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