Journal
EUROPEAN JOURNAL OF NEUROLOGY
Volume 15, Issue 6, Pages 548-551Publisher
WILEY
DOI: 10.1111/j.1468-1331.2008.02104.x
Keywords
ARCMT; Charcot-Marie-tooth disease; CMT4F; demyelinating CMT; PRX
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Background: Mutations in the periaxin (PRX) gene cause autosomal recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F. To date, 10 nonsense or frameshift PRX mutations have been reported in patients with early-onset neuropathy and further disease course consistent with either Dejerine - Sottas neuropathy or slow-progressive demyelinating CMT. Methods: We sequenced 59 patients from 55 Czech families including four unrelated patients of Romani (Gypsy) origin with early-onset CMT displaying decreased nerve conduction velocities. Results: We identified a novel homozygous mutation c. 3286_3356del71 (K1095fsX18) in one Romani patient showing very slow disease progression. Amongst non-Romani Czech CMT patients, PRX mutations have been proven to be very rare.
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