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Article

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

Clinical genetics - 1 Aug 2017

Sulaiman R A, Patel N, Alsharif H, Arold S T, Alkuraya F S

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28369803
DOI: 10.1111/cge.12963

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A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.PMID 28369803Read ↗

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Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.Semantic proximity Read ↗

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