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Article

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

12 Jan 2017

Abstract excerpt

OBJECTIVE: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. METHODS: Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in...

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Share to Amyotrophic Lateral Sclerosis Research
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PMID: 28077491
DOI: 10.1212/wnl.0000000000003595

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