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Article

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.

Muscle & nerve - 1 Nov 2017

Caress James B, Johnson Janel O, Abramzon Yevgeniya A, Hawkins Gregory A, Gibbs J Raphael, Sullivan Elizabeth A, Chahal Chamanpreet S, Traynor Bryan J

Abstract excerpt

INTRODUCTION: Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimics motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS. METHODS: We studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28039894
DOI: 10.1002/mus.25550
PMCID: PMC5494018

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GSN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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