만성염증탈수초다발신경병과 유사한 전기진단검사 결과를 보인 새로운 p.Arg98Leu MPZ 유전자돌연변이를 가진 CMT1B 환자
CMT1B Patient with a Novel p.Arg98Leu MPZ Variant Mimicking Chronic Inflammatory Demyelinating Polyneuropathy on Electrodiagnostic Testing
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초록
Conduction block or temporal dispersion on motor nerve conduction studies (NCSs) are known as key features of chronic inflammatory demyelinating polyneuropathy. Some types of CharcotMarieTooth disease (CMT) have been also reported to show conduction block or temporal dispersion on NCS. We experienced a case who presented with slowly progressive motor weakness, sensory loss, foot deformity, and segmental demyelination on NCS. We confirmed her and her mother harboring CMT1B with a novel p.Arg98Leu MPZ variant.
Abstract
Conduction block or temporal dispersion on motor nerve conduction studies (NCSs) are known as key features of chronic inflammatory demyelinating polyneuropathy. Some types of CharcotMarieTooth disease (CMT) have been also reported to show conduction block or temporal dispersion on NCS. We experienced a case who presented with slowly progressive motor weakness, sensory loss, foot deformity, and segmental demyelination on NCS. We confirmed her and her mother harboring CMT1B with a novel p.Arg98Leu MPZ variant.
참고문헌 (8)
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