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Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication

✍ Scribed by Dr. A. Uncini; A. Di Muzio; F. Chiavaroli; D. Gambi; M. Sabatelli; N. Archidiacono; R. Antonacci; R. Marzella; M. Rocchi


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
700 KB
Volume
35
Category
Article
ISSN
0364-5134

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Duplication of part of chromosome 17 is
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Hereditary motor and sensory neuropathy type I (HMSNI), also known as Charcot-Marie-Tooth disease type 1 (CMTl), has been shown to be genetically heterogeneous. A major gene maps to chromosome 17 (CMTlA). A set of loci, D17S122, D17S125, and D17S124, show tight linkage to the C M T l A locus, and a

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Multifocal motor neuropathy (MMN) is typically associated with distal upper limb weakness and wasting. However, proximal muscle bulk, particularly of biceps brachii, may be well preserved even in the presence of severe proximal weakness. Here we report 3 patients with MMN who had true muscle hypertr

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In a cross-sectional, clinical, and morphometric analysis we assessed the correlation between the clinical and pathological evolution of disease in 20 unrelated patients of various ages affected by Charcot-Marie-Tooth neuropathy type 1A (CMT1A) with the 17p11.2p12 (peripheral myelin protein 22, PMP2