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Article

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Neurogenetics - 1 Oct 2009

Brusse Esther, Majoor-Krakauer Danielle, de Graaf Bianca M, Visser Gerhard H, Swagemakers Sigrid, Boon Agnita J W, Oostra Ben A, Bertoli-Avella Aida M

Abstract excerpt

We describe the neurological, electrophysiological, and genetic features of autosomal dominant distal hereditary motor neuronopathy (HMN) in a three-generation Dutch family, including 12 patients with distal muscle weakness and atrophy. The severity of disease ranged from disabling muscle weakness to a subclinical phenotype. Neurologic exams of nine patients and nerve conduction studies (NCS) and myography in...

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Source

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Identifiers

PMID: 19396477
DOI: 10.1007/s10048-009-0193-1
PMCID: PMC2758216

Genes

BSCL2
LITAF

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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