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Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan’s disease

✍ Scribed by K. Sreevishnupriya, P. Chandrasekaran, A. Senthilkumar…


Book ID
120798704
Publisher
Science in China Press (SCP)
Year
2012
Tongue
English
Weight
596 KB
Volume
55
Category
Article
ISSN
1674-7305

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## Abstract We describe two sisters with a mild‐onset variant of Canavan's disease who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures. Remarkably, both patients had age‐appropriate head control, gross motor development, and mu