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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

✍ Scribed by Züchner, Stephan; Noureddine, Maher; Kennerson, Marina; Verhoeven, Kristien; Claeys, Kristl; Jonghe, Peter De; Merory, John; Oliveira, Sofia A; Speer, Marcy C; Stenger, Judith E

Book ID
109919117
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
582 KB
Volume
37
Category
Article
ISSN
1061-4036

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Charcot–marie–tooth disease with interme
Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene
✍ 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