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February 11, 2003

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene

February 11, 2003 issue
60 (3) 506-508

Abstract

The molecular basis for the clinically distinct entity of deafness with Charcot-Marie-Tooth disease has not been established with certainty. The authors report deafness associated with a demyelinating neuropathy in three individuals of a family in whom a novel four–amino acid deletion in the PMP22 gene was identified. The data and review of literature suggest that in the PMP22 gene, some point mutations and small deletions in the transmembrane domain that are in close proximity to the extracellular component of the protein result in this clinically distinct entity.

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Information & Authors

Information

Published In

Neurology®
Volume 60Number 3February 11, 2003
Pages: 506-508
PubMed: 12578939

Publication History

Received: May 6, 2002
Accepted: October 1, 2002
Published online: February 11, 2003
Published in print: February 11, 2003

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Authors

Affiliations & Disclosures

Nyamkhishig Sambuughin, PhD
From the Division of Neurology, Neuromuscular Diseases Section, Barrow Neurological Institute, Phoenix, AZ.
Astrid de Bantel, BS
From the Division of Neurology, Neuromuscular Diseases Section, Barrow Neurological Institute, Phoenix, AZ.
Shona McWilliams, MS
From the Division of Neurology, Neuromuscular Diseases Section, Barrow Neurological Institute, Phoenix, AZ.
Kumaraswamy Sivakumar, MD
From the Division of Neurology, Neuromuscular Diseases Section, Barrow Neurological Institute, Phoenix, AZ.

Notes

Address correspondence and reprint requests to Dr. K. Sivakumar, Barrow Neurological Institute, 240 W. Thomas Rd., Phoenix, AZ 85013; e-mail: [email protected]

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