@article{6dfa88f43fac4409b5f264ed91e0bb36,
title = "POLG mutations presenting as Charcot-Marie-Tooth disease",
abstract = "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.",
keywords = "mitochondria, neuropathy, uniparental disomy",
author = "Jade Phillips and Steve Courel and Rebelo, {Adriana P.} and Bis-Brewer, {Dana M.} and Tanya Bardakjian and Lois Dankwa and Hamedani, {Ali G.} and Stephan Z{\"u}chner and Scherer, {Steven S.}",
note = "Funding Information: The work was supported by the Judy Seltzer Levenson Memorial Fund for CMT Research, and by the Inherited Neuropathy Consortium (INC; U54 NS065712), which is a part of the NCATS Rare Disease Clinical Research Network (RDCRN), an initiative of the Office of Rare Disease Research (ORDR), NCATS. TB is supported by the Neurogenetics Translational Center of Excellence, Department of Neurology, the Perelman School of Medicine at the University of Pennsylvania. We thank the families for participating, Jessica Richardson and Diana Lee for their help, and GeneDx for their assistance with clinical confirmation and interpretation of the genetic data.",
year = "2019",
month = jun,
doi = "10.1111/jns.12313",
language = "English (US)",
volume = "24",
pages = "213--218",
journal = "Journal of the Peripheral Nervous System",
issn = "1085-9489",
publisher = "Wiley-Blackwell",
number = "2",
}