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Gelsolin variant amyloidosis mimicking progressive bulbar palsy
- Park, Jinseok;
- Kim, Young-Eun;
- Oh, Ki-Wook;
- Nahm, Minyeop;
- Kim, Yu Jeong;
- ... Kim, Mi Jung;
- ... Kim, Seung Hyun
Citations
WEB OF SCIENCE
5Citations
SCOPUS
5키워드
gelsolin; gelsolin; adult; amyloidosis; atrophy; autosomal dominant inheritance; brother; bulbar paralysis; case report; clinical article; diagnostic error; dry eye syndrome; dysarthria; dysphagia; face muscle; facial nerve paralysis; facial weakness; female; genetic screening; genetic variability; grandmother; hereditary gelsolin amyloidosis; human; lattice corneal dystrophy; Letter; masseter muscle; middle aged; mother; motor neuron disease; muscle action potential; muscle twitch; myokymia; needle electromyography; nerve regeneration; neuroimaging; neurologic examination; nuclear magnetic resonance imaging; ophthalmologist; orbicularis oris muscle; ptosis (eyelid); skin turgor; slit lamp microscopy; slurred speech; tongue atrophy; weakness; whole exome sequencing; familial amyloid polyneuropathy; familial amyloidosis; genetics; mutation
- 제목
- Gelsolin variant amyloidosis mimicking progressive bulbar palsy
- 저자
- Park, Jinseok; Kim, Young-Eun; Oh, Ki-Wook; Nahm, Minyeop; Kim, Yu Jeong; Kim, Mi Jung; Kim, Seung Hyun
- 발행일
- 2022-08
- 유형
- Letter; Early Access
- 저널명
- Muscle and Nerve
- 권
- 66
- 호
- 5
- 페이지
- E28 ~ E33
- 언어
- ENG
- 출판사
- WILEY
- 발행국가
- 미국
- ISSN
- E 1097-4598
P 0148-639X