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Article

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

Neuromuscular disorders : NMD - 1 Feb 2006

van de Warrenburg Bart P C, Scheffer Hans, van Eijk Jeroen J J, Versteeg Martina H A, Kremer Hannie, Zwarts Machiel J, Schelhaas H Jurgen, van Engelen Baziel G M

Abstract excerpt

Mutations in the BSCL2 gene have recently been identified in families with (SPG17-linked) Silver syndrome-type hereditary spastic paraparesis as well as in families with distal hereditary motor neuropathy (HMN). We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with...

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Source

Identifiers

PMID: 16427281
DOI: 10.1016/j.nmd.2005.11.003

Genes

BSCL2

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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