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- SourceAvailable from: Philip Beales[Show abstract] [Hide abstract]
ABSTRACT: We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity. © 2013 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 02/2014; 164(1). DOI:10.1002/ajmg.a.36235
- 10/2013; 32(10). DOI:10.1016/j.repc.2013.01.010
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ABSTRACT: Autosomal recessive axonal neuropathy with neuromyotonia is a recently described entity associated to the HINT1 gene, encoding histidine triad nucleotide-binding protein 1. 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. This report emphasizes the late onset of clinical myotonia essential to the diagnosis.Pediatric Neurology 10/2013; 50(1). DOI:10.1016/j.pediatrneurol.2013.08.028
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