title: Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  This report emphasizes the late onset of clinical myotonia essential to the diagnosis.
authors.affiliation: Unidade de Neuropediatria, Centro de Desenvolvimento da Criança Luis Borges, Hospital Pediátrico de Coimbra, Centro Hospitalar Universitário de Coimbra, Portugal. Electronic address: serracaetano@yahoo.com.
authors.forename: Joana Serra
authors.initials: JS
authors.lastname: Caetano
authors.affiliation: Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium.
authors.forename: Carmen
authors.initials: C
authors.lastname: Costa
authors.affiliation: Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium; Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Baets
authors.affiliation: Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium; Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium.
authors.forename: Madgalena
authors.initials: M
authors.lastname: Zimon Phd
authors.affiliation: Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Centro HospitalarUniversitário de Coimbra, Portugal; Faculdade de Medicina, Universidade de Coimbra, Portugal.
authors.forename: Margarida
authors.initials: M
authors.lastname: Venâncio Phd
authors.affiliation: Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Centro HospitalarUniversitário de Coimbra, Portugal; Faculdade de Medicina, Universidade de Coimbra, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Saraiva Phd
authors.affiliation: Consulta de Doenças Neuromusculares, Hospitais da Universidade de Coimbra, Centro Hospitalar Universitário de Coimbra, Portugal.
authors.forename: Luís
authors.initials: L
authors.lastname: Negrão
authors.affiliation: Unidade de Neuropediatria, Centro de Desenvolvimento da Criança Luis Borges, Hospital Pediátrico de Coimbra, Centro Hospitalar Universitário de Coimbra, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Fineza
mesh_terms: D000293:Adolescent; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D020386:Isaacs Syndrome / Q000150:complications*; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000150:complications*
keywords: HINT1; axonal neuropathy; myotonia; neuromyotonia; neuropathy