유전성 운동 및 감각 신경병의 DNA 진단 검사

• 영문명: DNA diagnostic testing in hereditary motor and sensory neuropathies
• 발행기관: 대한의학유전학회
• 저자명: 최병옥(Byung-Ok Choi)
• 간행물 정보: 『대한의학유전학회지』제4권 제2호, 115~121쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2007.12.30

영문 초록

Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886, HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Using positional cloning methods, the chromosomal localization (locus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show linkage to the known loci. This issue deals with a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.

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HMSN Charcot-Marie-Tooth disease Gene Diagnosis