Myoclonic Epilepsy with Ragged-Red Fibers (Mitochondrial tRNAlys Mutation) Matrilineal, Mitochondrial
- 최초 등록일
- 2009.02.01
- 최종 저작일
- 2008.11
- 16페이지/
MS 파워포인트
- 가격 1,500원
![할인쿠폰받기](/images/v4/document/ico_det_coupon.gif)
소개글
Myoclonic Epilepsy with Ragged-Red Fibers (Mitochondrial tRNAlys Mutation) Matrilineal, Mitochondrial과 관련된 case에 대한 PPT 발표자료입니다
목차
PATIENT
PEDIGREE
Myoclonic Epilepsy with Ragged-Red Fibers
PHENOTYPE AND NATURAL HISTORY
BACKGROUND
PATHOGENESIS
CRITICAL
INHERITANCE RISK
MANAGEMENT
GROUP DISCUSSION
REFERENCE
본문내용
15-year-boy
Clinic for myoclonic epilepsy(간대성 근경련 발작)
EEG : burst of slow wave and spike complex
(극서파 복합)
Before the seizure developed
well and developing normally
Pedigrees
Grand mother
80-year-old
Deafness
Diabetes
Renal dysfunction
Aunt
Progessive dementia
Present with ataxia
Until 37 years
Uncle
Died at 53 years
Undiagnosed myopathic disorder
참고 자료
Genetics in medicine, Thomson p.290~291
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=merrf
http://www.mitoresearch.org/mitodiseases.html
Oxidative stress in human aging and mitochondrial disease-consequences of defective mitochondrial respiration and impaired antioxidant enzyme system. ; Y H Wei, C Y Lu, C Y Wei, Y S Ma, H C Lee