Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
β Scribed by B. J. Zeng; Z. H. Wang; L. A. Ribeiro; P. Leone; R. De Gasperi; S. J. Kim; S. Raghavan; E. Ong; G. M. Pastores; E. H. Kolodny
- Book ID
- 110414047
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 107 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0141-8955
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## Abstract We describe two sisters with a mildβonset 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 ageβappropriate head control, gross motor development, and mu
The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000].