POLG mutations presenting as Charcot-Marie-Tooth disease.
mitochondria
neuropathy
uniparental disomy
Journal
Journal of the peripheral nervous system : JPNS
ISSN: 1529-8027
Titre abrégé: J Peripher Nerv Syst
Pays: United States
ID NLM: 9704532
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
15
02
2019
revised:
27
02
2019
accepted:
02
03
2019
pubmed:
8
3
2019
medline:
19
5
2020
entrez:
8
3
2019
Statut:
ppublish
Résumé
We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chromosome 15. The other patient had a complex phenotype that included early onset axonal Charcot-Marie-Tooth disease (CMT) caused by compound heterozygous c.926G>A (p.Arg309His) and c.2209G>C (p.Gly737Arg) mutations.
Identifiants
pubmed: 30843307
doi: 10.1111/jns.12313
pmc: PMC8287532
mid: NIHMS1700226
doi:
Substances chimiques
DNA Polymerase gamma
EC 2.7.7.7
POLG protein, human
EC 2.7.7.7
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
213-218Subventions
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Informations de copyright
© 2019 Peripheral Nerve Society.
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