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Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency Due to a Variant in Hadha Gene Publisher



Abedidoust S1 ; Badv RS2 ; Saliani A3 ; Azariyam A1
Authors
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Authors Affiliations
  1. 1. Department of Molecular Pathology and Cytogenetics, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Pediatric Neurology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. William Harvey Research Institute, Queen Mary University of London, London, United Kingdom

Source: Iranian Journal of Pathology Published:2024


Abstract

We report a 4.5-year-old girl with recurrent episodes of bilateral lower limb weakness following periods of upper respiratory tract infection since the age of 1.5 years. Nerve conduction velocity and electromyography studies suggested distal motor neuropathy. The whole exome sequencing analysis revealed a homozygous variant, c.955G>A (p.Gly319Ser), of the mitochondrial trifunctional protein α-subunit (HADHA) gene. This variant has already been reported as pathogenic in an Iranian consanguineous family with a probable diagnosis of Charcot-Marie-Tooth disease. In addition, this variant, in compound heterozygosity with another likely pathogenic variant, has been known to be linked with mitochondrial trifunctional protein deficiency. © 2024, Iranian Society of Pathology. All rights reserved.
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