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The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4

✍ Scribed by R Claramunt; T Sevilla; V Lupo; A Cuesta; JM Millán; JJ Vílchez; F Palau; C Espinós


Book ID
110888370
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
306 KB
Volume
71
Category
Article
ISSN
0009-9163

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Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a