Title: Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation
Authors: Gallardo, Elena ×
Claeys, Kristl
Nelis, Eva
García, Antonio
Canga, Ana
Combarros, Onofre
Timmerman, Vincent
De Jonghe, Peter
Berciano, José #
Issue Date: Jul-2008
Publisher: Springer-Verlag
Series Title: Journal of Neurology vol:255 issue:7 pages:986-992
Article number: 10.1007/s00415-008-0808-8
Abstract: The purpose of the study was to prospectively assess magnetic resonance (MR) imaging findings of lower limb musculature in an axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in the dynamin 2 gene (DNM2). The series comprises a proband patient aged 55 years and her two affected daughters aged 32 and 23. MR imaging study included T1- and fat suppressed T2-weighted spin-echo sequences. MR imaging study showed extensive fatty infiltration of all calf muscle compartments with relative preservation of the deep posterior one. Fatty muscle infiltration increased distally in 19 out of 66 (23%) visualized calf muscles in the three patients, but this percentage increased to 64% in the youngest and least severe patient. Muscle edema without contrast enhancement was present in 23% of calf muscles. There was massive fatty atrophy of foot musculature. We conclude that MR imaging study accurately depicts lower limb muscle involvement in CMT2 caused by DNM2 mutation.
ISSN: 0340-5354
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
× corresponding author
# (joint) last author

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