[HTML][HTML] CNTNAP1 mutations in an adult with Charcot Marie Tooth disease

AS Freed, MD Weiss, EA Malouf, FM Hisama - Muscle & nerve, 2019 - ncbi.nlm.nih.gov
AS Freed, MD Weiss, EA Malouf, FM Hisama
Muscle & nerve, 2019ncbi.nlm.nih.gov
CNTNAP1 Mutations in an Adult with Charcot Marie Tooth Disease - PMC Back to Top Skip to
main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main Content
Main Navigation Search PMC Full-Text Archive Search in PMC Advanced Search User Guide
Journal List HHS Author Manuscripts PMC7605170 Other Formats PDF (153K) Actions Cite
Collections Share Permalink Copy RESOURCES Similar articles Cited by other articles Links to
NCBI Databases Journal List HHS Author Manuscripts PMC7605170 As a library, NLM provides …
Discussion:
We describe a patient with childhood CMT who was found to be compound heterozygous for one severe, premature terminating pathogenic variant, and one missense variant of uncertain significance in the CNTNAP1 gene.
ncbi.nlm.nih.gov