An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant <it>POLG1</it> mutation

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant <it>POLG1</it> mutation

<p>Abstract</p> <p>Background</p> <p>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...

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Bibliographic Details
Main Authors: Staropoli John F, Xin Winnie, Barone Rosemary, Cotman Susan L, Sims Katherine B
Format: Article
Language:English
Published: BMC 2012-06-01
Series:BMC Medical Genetics
Subjects:
Neuronal ceroid lipofuscinosis
CLN5
POLG1
mtDNA depletion
Oxidative phosphorylation
Online Access:http://www.biomedcentral.com/1471-2350/13/50

Internet

http://www.biomedcentral.com/1471-2350/13/50

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