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Article

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

American journal of human genetics - 13 Jul 2012

Beetz Christian, Pieber Thomas R, Hertel Nicole, Schabhüttl Maria, Fischer Carina, Trajanoski Slave, Graf Elisabeth, Keiner Silke, Kurth Ingo, Wieland Thomas, Varga Rita-Eva, Timmerman Vincent, Reilly Mary M, Strom Tim M, Auer-Grumbach Michaela

Abstract excerpt

The distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of neurodegenerative disorders affecting the lower motoneuron. In a family with both autosomal-dominant dHMN and dHMN type V (dHMN/dHMN-V) present in three generations, we excluded mutations in all genes known to be associated with a dHMN phenotype through Sanger sequencing and defined three potential loci through linkage analysis....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22703882
DOI: 10.1016/j.ajhg.2012.05.007
PMCID: PMC3397265

Genes

REEP1

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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