| Literature DB >> 16427281 |
Bart P C van de Warrenburg1, Hans Scheffer, Jeroen J J van Eijk, Martina H A Versteeg, Hannie Kremer, Machiel J Zwarts, H Jurgen Schelhaas, Baziel G M van Engelen.
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.Entities:
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Year: 2006 PMID： 16427281 DOI： 10.1016/j.nmd.2005.11.003
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296