TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation

Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in TSE...

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Detalles Bibliográficos
Autores principales: Pacheva, Iliyana Hristova, Todorov, Tihomir, Ivanov, Ivan, Tartova, Desislava, Gaberova, Katerina, Todorova, Albena, Dimitrova, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787054/
https://www.ncbi.nlm.nih.gov/pubmed/29410950
http://dx.doi.org/10.3389/fped.2018.00001

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