Literature DB >> 8736411

Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction.

N Zelnik1, F B Axelrod, E Leshinsky, M L Griebel, E H Kolodny.   

Abstract

Three children are reported with mitochondrial encephalomyopathy who presented with autonomic dysfunction. Autonomic dysfunction included gastrointestinal dysmotility, apnea, cardiac arrhythmias, decreased lacrimation, supersensitivity to metacholine, altered sweating, and postural hypotension. These patients illustrate that in some mitochondrial encephalomyopathies autonomic features may be prominent and can mimic the clinical features associated with hereditary sensory and autonomic neuropathies.

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Year:  1996        PMID: 8736411     DOI: 10.1016/0887-8994(96)00046-x

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  5 in total

Review 1.  Mitochondrial deficiency in Cockayne syndrome.

Authors:  Morten Scheibye-Knudsen; Deborah L Croteau; Vilhelm A Bohr
Journal:  Mech Ageing Dev       Date:  2013-02-19       Impact factor: 5.432

2.  Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.

Authors:  Marcus Brecht; Malcolm Richardson; Ajay Taranath; Scott Grist; David Thorburn; Drago Bratkovic
Journal:  JIMD Rep       Date:  2015-02-15

3.  Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

Authors:  Timothy Parsons; Louis Weimer; Kristin Engelstad; Alex Linker; Vanessa Battista; Ying Wei; Michio Hirano; Salvatore Dimauro; Darryl C De Vivo; Petra Kaufmann
Journal:  Arch Neurol       Date:  2010-08

4.  Evidence of cardiovascular autonomic impairment in mitochondrial disorders.

Authors:  Rita Di Leo; Olimpia Musumeci; Cesare de Gregorio; Antonio Recupero; Patrizia Grimaldi; Corrado Messina; Sebastiano Coglitore; Giuseppe Vita; Antonio Toscano
Journal:  J Neurol       Date:  2007-11-09       Impact factor: 6.682

Review 5.  Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.

Authors:  Shannon Rose; Dmitriy M Niyazov; Daniel A Rossignol; Michael Goldenthal; Stephen G Kahler; Richard E Frye
Journal:  Mol Diagn Ther       Date:  2018-10       Impact factor: 4.074

  5 in total

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