Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MR...
Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family
About this item
Full title
Author / Creator
Publisher
Heidelberg: D. Steinkopff-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Heidelberg: D. Steinkopff-Verlag
Subjects
More information
Scope and Contents
Contents
The purpose of the present study was to describe clinico-electrophysiological features and lower limb muscle MRI findings in a CMT2J pedigree due to
MPZ
Thr124Met mutation. We examined the proband, aged 56 years, and her affected daughter and son, aged 30 and 29 years. Disease severity in terms of ability to walk and run was established using...
Alternative Titles
Full title
Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_21301477
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_21301477
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-009-5251-y
