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A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.

Authors :
Sulaiman, R.A.
Patel, N.
Alsharif, H.
Arold, S.T.
Alkuraya, F.S.
Source :
Clinical Genetics. Aug2017, Vol. 92 Issue 2, p230-231. 3p. 1 Diagram.
Publication Year :
2017

Details

Language :
English
ISSN :
00099163
Volume :
92
Issue :
2
Database :
Academic Search Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
124129758
Full Text :
https://doi.org/10.1111/cge.12963