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

2006; Elsevier BV; Volume: 16; Issue: 2 Linguagem: Inglês

10.1016/j.nmd.2005.11.003

1873-2364

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

Cellular transport and secretion

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.