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T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
Joint Authors
Jerath, Nivedita U.
Ho, Kwo Wei David
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-12-25
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
The clinical effect of T118M variant of the PMP22 gene has been controversial.
Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant.
Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant.
These three unrelated cases were heterozygotes with the T118M variant of the PMP22 gene.
All three cases presented with painful peripheral neuropathy and varying degrees of Charcot-Marie-Tooth exam features.
Electrophysiological studies revealed polyneuropathy with axonal and demyelinating features in one case, but there were minimal electrophysiological changes in the other two cases.
We propose that the T118M variant can cause painful peripheral neuropathy, which may be an underrecognized feature of this variant.
American Psychological Association (APA)
Ho, Kwo Wei David& Jerath, Nivedita U.. 2018. T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1143304
Modern Language Association (MLA)
Ho, Kwo Wei David& Jerath, Nivedita U.. T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature. Case Reports in Genetics No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1143304
American Medical Association (AMA)
Ho, Kwo Wei David& Jerath, Nivedita U.. T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1143304
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143304