Publication
Title
Autosomal recessive axonal neuropathy with neuromyotonia : a rare entity
Author
Abstract
BACKGROUND: Autosomal recessive axonal neuropathy with neuromyotonia is a recently described entity associated to the HINT1 gene, encoding histidine triad nucleotide-binding protein 1. PATIENT: The authors report a Portuguese 16-year-old girl of Roma ethnicity, descendant of consanguineous parents, with progressive distal muscular atrophy and weakness, beginning at age 6. After several years of extensive investigation with inconclusive results, clinical myotonia was identified. Electrophysiologic studies revealed neuromyotonia associated with a severe chronic predominantly motor axonal neuropathy and homozygous mutation (c.334 C > A, p.H112 N) in HINT1 was detected. CONCLUSION: This report emphasizes the late onset of clinical myotonia essential to the diagnosis.
Language
English
Source (journal)
Pediatric neurology. - Chippewa Falls, Wisc.
Publication
Chippewa Falls, Wisc. : 2014
ISSN
0887-8994
Volume/pages
50:1(2014), p. 104-107
ISI
000329601200019
Full text (Publishers DOI)
Full text (publishers version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 07.03.2014
Last edited 17.05.2017
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