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...

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Detaylı Bibliyografya
Asıl Yazarlar: Staropoli, John F, Xin, Winnie, Barone, Rosemary, Cotman, Susan L, Sims, Katherine B
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2012
Konular:
Case Report
Online Erişim: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
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