Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

doi:10.1212/WNL.0000000000008672

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Article

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Neurology - 7 Jan 2020

Cortese Andrea, Wilcox Janel E, Polke James M, Poh Roy, Skorupinska Mariola, Rossor Alexander M, Laura Matilde, Tomaselli Pedro J, Houlden Henry, Shy Michael E, Reilly Mary M

Abstract excerpt

OBJECTIVE: To investigate the effectiveness of targeted next-generation sequencing (NGS) panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and related disorders in a clinical setting. METHODS: We prospectively enrolled 220 patients from 2 tertiary referral centers, one in London, United Kingdom (n = 120), and one in Iowa (n = 100), in whom a targeted CMT NGS panel had been requested...

Topics

Adult
Age of Onset
Aged
Charcot-Marie-Tooth Disease
Cohort Studies
Consanguinity
Demyelinating Diseases
Family
Female
Gene Dosage
Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Humans

Male

Middle Aged

Mutation

Prospective Studies

Risk Factors

Source

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Identifiers

PMID: 31827005
DOI: 10.1212/WNL.0000000000008672
PMCID: PMC7011687

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