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Article

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Journal of neurology - 1 Mar 2012

Fischer Carina, Trajanoski Slave, Papić Lea, Windpassinger Christian, Bernert Günther, Freilinger Michael, Schabhüttl Maria, Arslan-Kirchner Mine, Javaher-Haghighi Poupak, Plecko Barbara, Senderek Jan, Rauscher Christian, Löscher Wolfgang N, Pieber Thomas R, Janecke Andreas R, Auer-Grumbach Michaela

Abstract excerpt

Considerable non-allelic heterogeneity for autosomal recessively inherited Charcot-Marie-Tooth (ARCMT) disease has challenged molecular testing and often requires a large amount of work in terms of DNA sequencing and data interpretation or remains unpractical. This study tested the value of SNP array-based whole-genome homozygosity mapping as a first step in the molecular genetic diagnosis of sporadic or ARCMT in...

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Source

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Identifiers

PMID: 21892769
DOI: 10.1007/s00415-011-6213-8
PMCID: PMC3296015

Genes

HSPB1
MFN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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