Abstract
Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #. 607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.
Original language | English |
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Pages (from-to) | 275-278 |
Number of pages | 4 |
Journal | European Journal of Medical Genetics |
Volume | 57 |
Issue number | 6 |
DOIs | |
Publication status | Published - May 2014 |
Externally published | Yes |
Keywords
- ALS2 gene
- IAHSP
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)