Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy

Abstract

We report a second family with non-syndromic inherited demyelinating motor and sensory neuropathy (HMSN I) with FBLN5 mutation and confirm FBLN5 mutations as the new cause of HMSN I.

Keywords

• macular degeneration
• cutis laxa
• fibulin-5
• gene