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Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation

✍ Scribed by Young, T.; Shuey, N.; Partridge, J.; Bremner, F. D.; Nicholl, D. J.


Book ID
118119491
Publisher
BMJ Publishing Group
Year
2012
Tongue
English
Weight
149 KB
Volume
84
Category
Article
ISSN
0022-3050

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Charcot–marie–tooth disease with interme
✍ Isabel Banchs; Carlos Casasnovas; Jordi Montero; Victor Volpini; Juan Antonio Ma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 511 KB

## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c