کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3081836 1189400 2006 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 16, Issue 2, February 2006, Pages 122–125
نویسندگان
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