Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

被引：19

作者：

Blumenthal, DT

Shanske, S

Schochet, SS

Santorelli, FM

DiMauro, S

Jaynesm, M

Bodensteiner, J

机构：

[1] W Virginia Univ Hosp, Dept Neurol, Morgantown, WV USA

[2] W Virginia Univ Hosp, Dept Pathol, Morgantown, WV USA

[3] W Virginia Univ Hosp, Dept Child Neurol, Morgantown, WV USA

[4] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

来源：

NEUROLOGY | 1998年 / 50卷 / 02期

关键词：

D O I：

10.1212/WNL.50.2.524

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In a patient with clinical features of myoclonus epilepsy with ragged red fibers (MERFF), molecular genetic analysis of mitochondrial DNA did not show either of the two point; mutations typically associated with MERRF but did show multiple deletions by Southern blot. This case further illustrates the heterogeneity observed with mtDNA mutations.

引用

页码：524 / 525

页数：2

共 50 条

[1] Myoclonus epilepsy with ragged-red fibers with findings of multiple deletions in mitochondrial DNA
Blumenthal, D
Jaynes, M
Bodensteiner, JB
Shanske, S
DiMauro, S
NEUROLOGY, 1996, 46 (02) : 12004 - 12004
[2] GENETIC TRANSMISSION OF MYOCLONUS EPILEPSY WITH RAGGED RED FIBERS
ROGER, J
ANNALS OF NEUROLOGY, 1986, 20 (04) : 545 - 545
[3] GENETIC TRANSMISSION OF MYOCLONUS EPILEPSY WITH RAGGED RED FIBERS - REPLY
WALLACE, DC
ROSING, HS
HOPKINS, L
ANNALS OF NEUROLOGY, 1986, 20 (04) : 546 - 546
[4] Molecular Diagnosis of Myoclonus epilepsy associated with Ragged-Red Fibers syndrome in the absence of Ragged Red Fibers
Park, Sun Yeong
Kim, Se Hoon
Lee, Young-Mock
FRONTIERS IN NEUROLOGY, 2017, 8
[5] Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome
Santorelli, FM
Casali, C
MUSCLE & NERVE, 1998, 21 (05) : 681 - 682
[6] ELECTROPHYSIOLOGICAL STUDIES IN MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS (MERRF)
SO, N
KUZNIECKY, R
BERKOVIC, S
QUESNEY, LF
GENDRON, D
ANDERMANN, F
ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY, 1988, 69 (03): : P50 - P50
[7] MUSCLE HISTOPATHOLOGY IN MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS (MERRF)
MATSUOKA, T
GOTO, Y
YONEDA, M
NONAKA, I
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1991, 106 (02) : 193 - 198
[8] Phenotypic Diversity of Myoclonus Epilepsy Associated with Ragged-red Fibers with an 8344A>G mtDNA Mutation
Miyaue, Noriyuki
Yamanishi, Yuki
Tada, Satoshi
Ando, Rina
Nagai, Masahiro
Nomoto, Masahiro
INTERNAL MEDICINE, 2019, 58 (18) : 2753 - 2753
[9] NEUROPATHOLOGY OF MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (FUKUHARA DISEASE)
TAKEDA, S
WAKABAYASHI, K
OHAMA, E
IKUTA, F
ACTA NEUROPATHOLOGICA, 1988, 75 (05) : 433 - 440
[10] Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers
Mita, S
Tokunaga, M
Uyama, E
Kumamoto, T
Uekawa, K
Uchino, M
MUSCLE & NERVE, 1998, 21 (04) : 490 - 497

← 1 2 3 4 5 →