Article

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

2019-04-17

Abstract excerpt

<h4>ABSTRACT</h4> We identified a homozygous missense mutation in the gene encoding NAD synthesizing enzyme NMNAT2 in two siblings with childhood onset polyneuropathy with erythromelalgia. No additional homozygotes for this rare allele, which leads to amino acid substitution T94M, were present among the unaffected relatives tested or in the 60,000 exomes of the ExAC database. For axons to survive, axonal NMNAT2 a...

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Literature Corpus work: b8faf96a-5d41-5b4e-bc55-c69a18c0f587
DOI: 10.1101/610907

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