Article
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.
Journal of child neurology - 1 Sept 2013
Miller Jake N, Pearce David A
Abstract excerpt
The neuronal ceroid lipofuscinoses are the most common autosomal recessive neurodegenerative disorders in children, with a worldwide incidence of 1 in 100,000 live births. Multiple clinical variants are caused by more than 400 mutations in at least 14 different genes. These progressive genetic disorders primarily manifest in the central nervous system because of an extensive loss of neurons, specifically in the...
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