Article
Rare myelin protein zero sequence variant in late onset CMT1B.
Journal of the neurological sciences - 15 Dec 2007
Souayah Nizar, Seltzer W K, Brannagan Thomas H, Chin Russell L, Sander Howard W
Abstract excerpt
Myelin protein zero (MPZ) mutations cause demyelinating neuropathies that range from severe neonatal to milder adult forms. We report a 65-year-old woman with slowly progressive leg weakness starting at 47. Examination revealed distal weakness and atrophy in all extremities, impaired light touch in both feet and pin perception to proximal calves, absent leg reflexes, and unsteady gait. Electrodiagnostic studies...
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