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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Dettagli Bibliografici
Pubblicato in:Front Pediatr
Autori principali: Pacheva, Iliyana Hristova, Todorov, Tihomir, Ivanov, Ivan, Tartova, Desislava, Gaberova, Katerina, Todorova, Albena, Dimitrova, Diana
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Pediatrics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5787054/
https://ncbi.nlm.nih.gov/pubmed/29410950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2018.00001
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