POLG Mutation in a Patient with Cataracts, Early-Onset Distal Muscle Weakness and Atrophy and Ovarian Dysgenesis

被引：0
|
作者：
Bekheirnia, Mir Reza [1 ]
Zhang, Wei [1 ]
Eble, Tanya [1 ]
Willis, Alecia [1 ]
Shaibani, Aziz [1 ]
Wong, Lee-jun [1 ]
Scaglia, Fernando [1 ]
Dhar, Shweta [1 ]
机构：
[1] Baylor Coll Med, Houston, TX 77030 USA
来源：
NEUROLOGY | 2012年 / 78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：
P07207
引用
收藏
页数：2
相关论文
共 50 条
  • [31] A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy
    Winkler, Paige A.
    Ramsey, Harrison D.
    Petersen-Jones, Simon M.
    VETERINARY OPHTHALMOLOGY, 2020, 23 (05) : 792 - 796
  • [32] Levodopa-Induced Ocular Dyskinesia in an Early-Onset Parkinson Disease Patient With GBA Mutation
    He, Jia-Ming
    Wu, Zhi-Bo
    Cai, Nai-Qing
    Lin, Yu
    CLINICAL NEUROPHARMACOLOGY, 2021, 44 (06) : 201 - 204
  • [33] De novo BRCA2 mutation in a patient with early-onset breast cancer.
    Robson, M
    Scheuer, L
    Baum, R
    Hull, J
    McDermott, D
    Pierce, H
    Nafa, K
    Ellis, N
    Offit, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 90 - 90
  • [34] A Novel Dystrophin Deletion Mutation in a Becker Muscular Dystrophy Patient With Early-Onset Dilated Cardiomyopathy
    Guo, Xiaoxiao
    Dai, Yi
    Cui, Liying
    Fang, Quan
    CANADIAN JOURNAL OF CARDIOLOGY, 2014, 30 (08) : 956.e1 - 956.e3
  • [35] Early-onset Cerebrovascular Disease and Smooth Muscle Dysfunction Associated with a Novel Mylk1 Mutation
    de Sa, Matheus Malta
    Fullerton, Heather J.
    Shapiro, Kevin A.
    STROKE, 2017, 48
  • [36] Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation
    Riboldi, Giulietta Maria
    Palma, Jose-Alberto
    Cortes, Etty
    Iida, Megan A.
    Sikder, Tamjeed
    Henderson, Brooklyn
    Raj, Towfique
    Walker, Ruth H.
    Crary, John F.
    Kaufmann, Horacio
    Frucht, Steven
    MOVEMENT DISORDERS, 2019, 34 (07) : 1080 - 1082
  • [37] Early-onset diabetes optic atrophy and confusion in a young patient: A rare genetic disorder that can be easily missed
    Santhosh, S.
    Ooi, C. S.
    Singh, A.
    DIABETIC MEDICINE, 2023, 40
  • [38] ACRODERMATITIS ENTEROPATHICA: A NOVEL SLC39A4 GENE MUTATION FOUND IN A PATIENT WITH AN EARLY-ONSET
    Santiago, Felicidade
    Matos, Jose
    Moreno, Ana
    Schmitt, Sebastien
    Bezieau, Stephane
    Tellechea, Oscar
    PEDIATRIC DERMATOLOGY, 2011, 28 (06) : 735 - 736
  • [39] A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
    Loid, Petra
    Makitie, Riikka
    Costantini, Alice
    Viljakainen, Heli
    Pekkinen, Minna
    Makitie, Outi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (09) : 1972 - 1975
  • [40] A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
    Loid, P.
    Makitie, R.
    Costantini, A.
    Viljakainen, H.
    Pekkinen, M.
    Makitie, O.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 933 - 933
12345