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Title: BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
Author(s): Warrenburg, B.P.C. van de ; Scheffer, H. ; Eijk, J.J.J. van ; Versteeg, M.H. ; Kremer, H. ; Zwarts, M.J. ; Schelhaas, H.J. ; Engelen, B.G.M. van
Publication year: 2006
Source: Neuromuscular Disorders, vol. 16, iss. 2, (2006), pp. 122-125
ISSN: 0960-8966
DOI: https://doi.org/10.1016/j.nmd.2005.11.003
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/50863   https://hdl.handle.net/2066/50863

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Subject: DCN 1: Perception and Action
DCN 2: Functional Neurogenomics
DCN 3: Neuroinformatics
IGMD 3: Genomic disorders and inherited multi-system disorders
NCEBP 10: Human Movement & Fatigue
NCMLS 6: Genetics and epigenetic pathways of disease
UMCN 3.1: Neuromuscular development and genetic disorders
UMCN 5.1: Genetic defects of metabolism
NCEBP 10: Human Movement & Fatigue
UMCN 5.1: Genetic defects of metabolism
Organization: Neurology
Human Genetics
IQ Healthcare
Otorhinolaryngology
Former Organization: Centre for Quality of Care Research
Journal title:
Neuromuscular Disorders
Volume: vol. 16
Issue: iss. 2
Page start: p. 122
Page end: p. 125
Abstract:
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 predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered.

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