Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.

doi:10.1016/j.neulet.2005.07.023

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Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.

Neuroscience letters - 21 Oct 2005

Kwon Jennifer M, Rothberg Paul G, Leman Adam R, Weimer Jill M, Mink Jonathan W, Pearce David A

Abstract excerpt

Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or Batten disease, is a childhood neurodegenerative disease that is characterized clinically by progressive visual loss, seizures, dementia, and motor incoordination. Children affected with this disease tend to develop normally for the first 5 years of life. However, once disease onset occurs, they decline rapidly and die in their late 20s to early 30s. Though this...

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Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.

Abstract excerpt

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Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.

Abstract excerpt

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