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

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

doi:10.1111/cge.12963

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

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

^*Corresponding author for this work

Biological, Environmental Sciences and Engineering

Research output: Contribution to journal › Letter › peer-review

15 Scopus citations

Original language	English (US)
Pages (from-to)	230-231
Number of pages	2
Journal	Clinical Genetics
Volume	92
Issue number	2
DOIs	https://doi.org/10.1111/cge.12963
State	Published - Aug 2017

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/cge.12963

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

author = "Sulaiman, {R. A.} and N. Patel and H. Alsharif and Arold, {S. T.} and Alkuraya, {F. S.}",

year = "2017",

month = aug,

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language = "English (US)",

volume = "92",

pages = "230--231",

journal = "Clinical Genetics",

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T1 - A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy

AU - Sulaiman, R. A.

AU - Patel, N.

AU - Alsharif, H.

AU - Arold, S. T.

AU - Alkuraya, F. S.

PY - 2017/8

Y1 - 2017/8

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U2 - 10.1111/cge.12963

DO - 10.1111/cge.12963

M3 - Letter

C2 - 28369803

AN - SCOPUS:85017035952

SN - 0009-9163

VL - 92

SP - 230

EP - 231

JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -

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

ASJC Scopus subject areas

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