کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3081334 1189371 2008 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Two Spanish families with Charcot-Marie-Tooth type 2A: Clinical, electrophysiological and molecular findings
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Two Spanish families with Charcot-Marie-Tooth type 2A: Clinical, electrophysiological and molecular findings
چکیده انگلیسی
Mutations in the Mitofusin 2 (MFN2) gene have been related to the axonal type of Charcot-Marie-Tooth type 2 (CMT 2A). We report the first two Spanish families with CMT 2 and mutations in MFN2 gene. Molecular studies of one family with late onset revealed the novel mutation Arg364Gln. The affected family members presented mild clinical and electrophysiological worsening after 14 years of follow-up. The other family presented an early onset and optic atrophy. Molecular studies revealed the Arg94Gln mutation. This is the first report of a family in which this mutation is related to optic atrophy. Molecular analysis aimed at detecting mutations of MFN2 could be extremely useful in mild axonal neuropathies with slow evolution and indispensable in cases of dominant inheritance or optic atrophy. Population studies of mutations in MFN2 should be undertaken to discover the real frequencies in the Mediterranean area.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 18, Issue 12, December 2008, Pages 974-978
نویسندگان
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