Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

doi:10.1093/brain/awt357

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Article

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Brain : a journal of neurology - 1 Mar 2014

Kornak Uwe, Mademan Inès, Schinke Marte, Voigt Martin, Krawitz Peter, Hecht Jochen, Barvencik Florian, Schinke Thorsten, Gießelmann Sebastian, Beil F Timo, Pou-Serradell Adolf, Vílchez Juan J, Beetz Christian, Deconinck Tine, Timmerman Vincent, Kaether Christoph, De Jonghe Peter, Hübner Christian A, Gal Andreas, Amling Michael, Mundlos Stefan, Baets Jonathan, Kurth Ingo

Abstract excerpt

Many neurodegenerative disorders present with sensory loss. In the group of hereditary sensory and autonomic neuropathies loss of nociception is one of the disease hallmarks. To determine underlying factors of sensory neurodegeneration we performed whole-exome sequencing in affected individuals with the disorder. In a family with sensory neuropathy with loss of pain perception and destruction of the pedal...

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Identifiers

PMID: 24459106
DOI: 10.1093/brain/awt357

Genes

ATL3
ATL1

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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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.PMID 24459106Read ↗

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