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Pontocerebellar hypoplasia type 2: a neuropathological update
Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was st...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2007
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2039791/ https://www.ncbi.nlm.nih.gov/pubmed/17641900 http://dx.doi.org/10.1007/s00401-007-0263-0 |