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Case Reports
. 2019 Nov;60(5):E28-E30.
doi: 10.1002/mus.26658. Epub 2019 Aug 27.

CNTNAP1 mutations in an adult with Charcot Marie Tooth disease

Amanda S Freed  1 , Michael D Weiss  2 , Emily A Malouf  3 , Fuki M Hisama  4
Affiliations
Case Reports

CNTNAP1 mutations in an adult with Charcot Marie Tooth disease

Amanda S Freed et al. Muscle Nerve. 2019 Nov.
No abstract available

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Conflict of interest statement

Statement of Financial Disclosure: None of the authors has any conflict of interest to disclose.

Figures

Figure 1.
Figure 1.
Schematic of CNTNAP1 gene and its protein domains. This patient’s variants are noted: a frameshift mutation that leads to early termination of the protein at exon 18 and a missense mutation at exon 19.
See this image and copyright information in PMC

References

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    1. Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013; 9:562–71. - PubMed
    1. Laquerriere A, Maluenda J, Camus A, Fontenas L, Dietrich K, Nolent F, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet 2014; 23(9): 2279–89. - PubMed
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    1. Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, et al. Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. Eur J Hum Genet 2018; 26(6):796–807. - PMC - PubMed

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