Wird geladen...
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
BACKGROUND: The neuronal ceroid lipofuscinoses (NCLs, or Batten disease) comprise the most common Mendelian form of childhood-onset neurodegeneration, but the functions of the known underlying gene products remain poorly understood. The clinical heterogeneity of these disorders may shed light on gen...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2012
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3443422/ https://ncbi.nlm.nih.gov/pubmed/22727047 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-50 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|