Axonal Neuropathy with Neuromyotonia

J Gordon Millichap

doi:10.15844/pedneurbriefs-28-2-5

Axonal Neuropathy with Neuromyotonia

Pediatric Neurology Briefs

Volume 28 (2014): Issue 2

By: J Gordon Millichap

Open Access

|Feb 2014

Abstract

Investigators from the Children's Hospital, Coimbra, Portugal, and centers in Belgium, report a 16-year-old girl with consanguineous parents who presented with progressive distal muscular atrophy and weakness, beginning at age 6 years.

References

Caetano JS Costa C Baets J Zimon Phd M Venâncio Phd M Saraiva Phd J Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity Pediatr Neurol 2014 Jan 50 1 104 7 10.1016/j.pediatrneurol.2013.08.028 24131582
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Zimoń M Baets J Almeida-Souza L De Vriendt E Nikodinovic J Parman Y Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia Nat Genet 2012 Oct 44 10 1080 3 10.1038/ng.2406 22961002
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-28-2-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 12 - 12

Published on: Feb 1, 2014

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Clinical Myotonia,

Homozygous Mutation,

Neuromyotonia

© 2014 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 28 (2014): Issue 2