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
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
收藏
页码:524 / 525
页数:2
相关论文
共 9 条
  • [1] Di Mauro S, 1997, MOL GENETIC BASIS NE, P201
  • [2] CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGH SYNDROME
    DIMAURO, S
    SERVIDEI, S
    ZEVIANI, M
    DIROCCO, M
    DEVIVO, DC
    DIDONATO, S
    UZIEL, G
    BERRY, K
    HOGANSON, G
    JOHNSEN, SD
    JOHNSON, PC
    [J]. ANNALS OF NEUROLOGY, 1987, 22 (04) : 498 - 506
  • [3] MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) - CLINICAL, BIOCHEMICAL, AND GENETIC FEATURES OF AN AUTOSOMAL RECESSIVE MITOCHONDRIAL DISORDER
    HIRANO, M
    SILVESTRI, G
    BLAKE, DM
    LOMBES, A
    MINETTI, C
    BONILLA, E
    HAYS, AP
    LOVELACE, RE
    BUTLER, I
    BERTORINI, TE
    THRELKELD, AB
    MITSUMOTO, H
    SALBERG, LM
    ROWLAND, LP
    DIMAURO, S
    [J]. NEUROLOGY, 1994, 44 (04) : 721 - 727
  • [4] DOMINANTLY INHERITED MITOCHONDRIAL MYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA - CLINICAL, MORPHOLOGICAL, AND BIOCHEMICAL-STUDIES
    SERVIDEI, S
    ZEVIANI, M
    MANFREDI, G
    RICCI, E
    SILVESTRI, G
    BERTINI, E
    GELLERA, C
    DIMAURO, S
    DIDONATO, S
    TONALI, P
    [J]. NEUROLOGY, 1991, 41 (07) : 1053 - 1059
  • [5] MYOCLONIC EPILEPSY AND RAGGED-RED FIBER DISEASE (MERRF) IS ASSOCIATED WITH A MITOCHONDRIAL-DNA TRANSFER RNALYS MUTATION
    SHOFFNER, JM
    LOTT, MT
    LEZZA, AMS
    SEIBEL, P
    BALLINGER, SW
    WALLACE, DC
    [J]. CELL, 1990, 61 (06) : 931 - 937
  • [6] A NEW MTDNA MUTATION IN THE TRNA(LEU(UUR)) GENE ASSOCIATED WITH MATERNALLY INHERITED CARDIOMYOPATHY
    SILVESTRI, G
    SANTORELLI, FM
    SHANSKE, S
    WHITLEY, CB
    SCHIMMENTI, LA
    SMITH, SA
    DIMAURO, S
    [J]. HUMAN MUTATION, 1994, 3 (01) : 37 - 43
  • [7] CLINICAL-FEATURES ASSOCIATED WITH THE A-]G TRANSITION AT NUCLEOTIDE-8344 OF MTDNA (MERRF MUTATION)
    SILVESTRI, G
    CIAFALONI, E
    SANTORELLI, FM
    SHANSKE, S
    SERVIDEI, S
    GRAF, WD
    SUMI, M
    DIMAURO, S
    [J]. NEUROLOGY, 1993, 43 (06) : 1200 - 1206
  • [8] SILVESTRI G, 1992, AM J HUM GENET, V51, P1213
  • [9] NEUROPATHOLOGY OF MITOCHONDRIAL ENCEPHALOMYOPATHIES DUE TO MITOCHONDRIAL-DNA DEFECTS
    SPARACO, M
    BONILLA, E
    DIMAURO, S
    POWERS, JM
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1993, 52 (01) : 1 - 10