Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.
case_report · Level V
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Abstract
A patient with hereditary neuropathy presented with asymmetric distal weakness. On nerve biopsy, there was demyelination and onion-bulb formation, and molecular analysis revealed that the patient was heterozygous for an MPZ mutation. The patient improved with corticosteroid treatment.
Medical subject headings
- Adrenal Cortex Hormones
- Hereditary Sensory and Motor Neuropathy
- Myelin P0 Protein
- Point Mutation