Mutation screening in patients with isolated cytochrome C oxidase deficiency

被引：0
|
作者：
Salviati, L
Sacconi, S
Sue, CM
Shanske, S
Davidson, MM
Bonilla, E
Naini, AB
DeVivo, DC
DiMauro, S
机构：
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2002年 / 199卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P430
引用
收藏
页码：S71 / S71
页数：1
相关论文
共 50 条
  • [21] Isolated sulfite oxidase deficiency: a founder mutation
    Mhanni, Aizeddin A.
    Greenberg, Cheryl R.
    Spriggs, Elizabeth L.
    Agatep, Ronald
    Sisk, Reena Ray
    Prasad, Chitra
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2020, 6 (06):
  • [22] Cytochrome c oxidase deficiency associated with a new stop codon mutation in mitochondrial DNA
    Hanna, MG
    Nelson, IP
    Rahman, S
    Schapira, AHV
    MorganHughes, JA
    Wood, NW
    ANNALS OF NEUROLOGY, 1997, 42 (03) : M79 - M79
  • [23] CYTOCHROME-OXIDASE DEFICIENCY PRESENTING AS ISOLATED MYOGLOBINURIA
    JOHNSTON, WSW
    PENN, AMW
    FULLER, TW
    SALAS, VM
    HALL, RE
    BURTON, MD
    DAGOSTINO, AN
    KENNAWAY, NG
    NEUROLOGY, 1993, 43 (04) : A372 - A372
  • [24] CYTOCHROME-C OXIDASE DEFICIENCY IN 3 PATIENTS WITH LEIGHS DISEASE
    DIROCCO, M
    VENESELLI, E
    CICCONE, MO
    TACCONE, A
    STROPPIANO, M
    COTTAFAVA, F
    JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 : 189 - 192
  • [25] VALPROATE AND CYTOCHROME-C-OXIDASE DEFICIENCY
    PONCHAUT, S
    VANHOOF, F
    VEITCH, K
    EUROPEAN JOURNAL OF PEDIATRICS, 1995, 154 (01) : 79 - 79
  • [26] VARIANT CYTOCHROME-C OXIDASE DEFICIENCY
    LUTZ, RE
    SCHAEFER, GB
    DEVIVO, DC
    GARNICA, AD
    PEDIATRIC RESEARCH, 1989, 25 (04) : A200 - A200
  • [27] Neuropathologic aspects of cytochrome C oxidase deficiency
    Tanji, K
    Bonilla, E
    BRAIN PATHOLOGY, 2000, 10 (03) : 422 - 430
  • [28] CYTOCHROME-C OXIDASE DEFICIENCY IN INFANCY
    OLDFORS, A
    SOMMERLAND, H
    HOLME, E
    TULINIUS, M
    KRISTIANSSON, B
    ACTA NEUROPATHOLOGICA, 1989, 77 (03) : 267 - 275
  • [29] CYTOCHROME-C-OXIDASE (COX) DEFICIENCY
    DIMAURO, S
    ZEVIANI, M
    BONILLA, E
    SAKODA, S
    SERVIDEI, S
    MIRANDA, AF
    SHERBANY, A
    PRELLE, A
    SCHON, EA
    MUSCLE & NERVE, 1986, 9 (05) : 79 - 79
  • [30] ISOFORMS OF MAMMALIAN CYTOCHROME-C-OXIDASE - CORRELATION WITH HUMAN CYTOCHROME-C-OXIDASE DEFICIENCY
    KENNAWAY, NG
    CARREROVALENZUELA, RD
    EWART, G
    BALAN, VK
    LIGHTOWLERS, R
    ZHANG, YZ
    POWELL, BR
    CAPALDI, RA
    BUIST, NRM
    PEDIATRIC RESEARCH, 1990, 28 (05) : 529 - 535
12345