Seizures, dystonia and progressive cerebellar degeneration in homozygous DNAJC19 mutation without dilated cardiomyopathy or 3-methylglutaconic aciduria

被引：0
|
作者：
Lopez, Marta Ruiz [1 ]
Hamdan, Fadi [2 ]
Rezazadeh, Arezoo [3 ]
Aznarez, Isabel [4 ]
Minassian, Berge [5 ]
Cossette, Patrick [6 ]
Michaud, Jacques [6 ]
Slow, Elizabeth [1 ]
Andrade, Danielle [3 ]
机构：
[1] Toronto Western Hosp, Toronto, ON, Canada
[2] CHU St Justine, Montreal, PQ, Canada
[3] Univ Toronto, Toronto, ON, Canada
[4] Stoke Therapeut, Beford, MA USA
[5] Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA
[6] CHUM, Montreal, PQ, Canada
来源：
NEUROLOGY | 2019年 / 92卷 / 15期
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：
P2.5-013
引用
收藏
页数：2
相关论文
共 9 条
  • [1] DILATED CARDIOMYOPATHY WITH 3-METHYLGLUTACONIC ACIDURIA
    DRAAISMA, JMT
    VANKESTEREN, IC
    DANIELS, O
    SENGERS, RCA
    PEDIATRIC CARDIOLOGY, 1994, 15 (02) : 89 - 90
  • [2] X-LINKED DILATED CARDIOMYOPATHY WITH NEUTROPENIA, GROWTH-RETARDATION, AND 3-METHYLGLUTACONIC ACIDURIA
    KELLEY, RI
    CHEATHAM, JP
    CLARK, BJ
    NIGRO, MA
    POWELL, BR
    SHERWOOD, GW
    SLADKY, JT
    SWISHER, WP
    JOURNAL OF PEDIATRICS, 1991, 119 (05): : 738 - 747
  • [3] Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
    Al Tuwaijri, Abeer
    Alyafee, Yusra
    Alharbi, Mashael
    Ballow, Maryam
    Aldrees, Mohammed
    Alam, Qamre
    Sleiman, Rola A.
    Umair, Muhammad
    Alfadhel, Majid
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (08):
  • [4] Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy
    Gaier, Eric D.
    Sahai, Inderneel
    Wiggs, Janey L.
    McGeeney, Brian
    Hoffman, Jodi
    Peeler, Crandall E.
    OPHTHALMIC GENETICS, 2019, 40 (06) : 570 - 573
  • [5] New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
    Ojala, Tiina
    Polinati, Padmini
    Manninen, Tuula
    Hiippala, Anita
    Rajantie, Jukka
    Karikoski, Riitta
    Suomalainen, Anu
    Tyni, Tiina
    PEDIATRIC RESEARCH, 2012, 72 (04) : 432 - 437
  • [6] New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
    Tiina Ojala
    Padmini Polinati
    Tuula Manninen
    Anita Hiippala
    Jukka Rajantie
    Riitta Karikoski
    Anu Suomalainen
    Tiina Tyni
    Pediatric Research, 2012, 72 : 432 - 437
  • [7] DILATED CARDIOMYOPATHY DUE TO TYPE-II X-LINKED 3-METHYLGLUTACONIC ACIDURIA - SUCCESSFUL TREATMENT WITH PANTOTHENIC-ACID
    OSTMANSMITH, I
    BROWN, G
    JOHNSON, A
    LAND, JM
    BRITISH HEART JOURNAL, 1994, 72 (04): : 349 - 353
  • [8] Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation
    Janz, Anna
    Chen, Ruping
    Regensburger, Martina
    Ueda, Yuichiro
    Rost, Simone
    Klopocki, Eva
    Guenther, Katharina
    Edenhofer, Frank
    Du, Henry J.
    Erguen, Sueleyman
    Gerull, Brenda
    STEM CELL RESEARCH, 2020, 46
  • [9] Case 38-2017-A 20-Year-Old Woman with Seizures and Progressive Dystonia Biotin-thiamine-responsive basal ganglia disease due to a homozygous c.1264A→G (p.Thr422Ala) mutation in SLC19A3
    Eichler, Florian S.
    Swoboda, Kathryn J.
    Hunt, Ann L.
    Cestari, Dean M.
    Rapalino, Otto
    NEW ENGLAND JOURNAL OF MEDICINE, 2017, 377 (24): : 2376 - 2385
1