POLG mutations presenting as Charcot-Marie-Tooth disease

Jade Phillips; Steve Courel; Adriana P Rebelo; Dana M Bis-Brewer; Tanya Bardakjian; Lois Dankwa; Ali G Hamedani; Stephan Züchner; Steven S Scherer

doi:10.1111/jns.12313

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POLG mutations presenting as Charcot-Marie-Tooth disease

Journal article

Peer reviewed

POLG mutations presenting as Charcot-Marie-Tooth disease

Jade Phillips, Steve Courel, Adriana P Rebelo, Dana M Bis-Brewer, Tanya Bardakjian, Lois Dankwa, Ali G Hamedani, Stephan Züchner and Steven S Scherer

Journal of the peripheral nervous system, Vol.24(2), pp.213-218

2019-06

DOI: https://doi.org/10.1111/jns.12313

PMID: 30843307

Abstract

Peripheral Nervous System Diseases - diagnosis

Diagnosis, Differential

Humans

Middle Aged

DNA Polymerase gamma - genetics

Neural Conduction - physiology

Charcot-Marie-Tooth Disease - genetics

Electrodiagnosis

Phenotype

Pedigree

Adolescent

Female

Mutation

Peripheral Nervous System Diseases - genetics

Charcot-Marie-Tooth Disease - diagnosis

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.

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.197 Molecular & Cell Biology - Mitochondria; 1.197.564 Mitochondrial DNA
Web Of Science research areas: Clinical Neurology; Neurosciences
ESI research areas: Neuroscience & Behavior

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Source: InCites

Details

Title: POLG mutations presenting as Charcot-Marie-Tooth disease
Creators: Jade Phillips - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Steve Courel - Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida
Adriana P Rebelo - Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida
Dana M Bis-Brewer - Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida
Tanya Bardakjian - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Lois Dankwa - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Ali G Hamedani - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Stephan Züchner - Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida
Steven S Scherer - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Publication Details: Journal of the peripheral nervous system, Vol.24(2), pp.213-218
Publisher: United States
Grant note: U54 NS065712 / NINDS NIH HHS
Academic Unit: Leadership Department; Miller School of Medicine; John P. Hussman Institute for Human Genomics
Language: English
Resource Type: Journal article
PMID: 30843307
Record Identifier: 991031576863502976