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
  • [1] POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria
    Bekheirnia, Mir Reza
    Zhang, Wei
    Eble, Tanya
    Willis, Alecia
    Shaibani, Aziz
    Wong, Lee-Jun C.
    Scaglia, Fernando
    Dhar, Shweta U.
    GENE, 2012, 499 (01) : 209 - 212
  • [2] Novel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy
    Ma, Lin
    Mao, Wei
    Xu, Erhe
    Cai, Yanning
    Wang, Chaodong
    Chhetri, Jagadish K.
    Chan, Piu
    INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2020, 130 (04) : 319 - 321
  • [3] NOVEL POLG MUTATION IN A PATIENT WITH EARLY-ONSET PARKINSONISM, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND OPTIC ATROPHY
    Ma, L.
    Mao, W.
    Chan, P.
    PARKINSONISM & RELATED DISORDERS, 2018, 46 : E29 - E29
  • [4] Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy
    Justin G Boyer
    Lyndsay M Murray
    Kyle Scott
    Yves De Repentigny
    Jean-Marc Renaud
    Rashmi Kothary
    Skeletal Muscle, 3
  • [5] Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy
    Boyer, Justin G.
    Murray, Lyndsay M.
    Scott, Kyle
    De Repentigny, Yves
    Renaud, Jean-Marc
    Kothary, Rashmi
    SKELETAL MUSCLE, 2013, 3
  • [6] Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene
    Naik, Swati
    Pohl, Keith
    Malik, Mohsin
    Siddiqui, Ata
    Josifova, Dragana
    PEDIATRIC NEUROLOGY, 2011, 45 (05) : 328 - 330
  • [7] Six children with early-onset mitochondrial encephalomyopathy and one heterozygous pathogenic mutation in POLG1
    Talim, B.
    Fuetterer, N.
    Plecko, B.
    Kale, G.
    Topaloglu, H.
    Horvath, R.
    NEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 659 - 660
  • [8] TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
    Sferra, Antonella
    Baillat, Gilbert
    Rizza, Teresa
    Barresi, Sabina
    Flex, Elisabetta
    Tasca, Giorgio
    D'Amico, Adele
    Bellacchio, Emanuele
    Ciolfi, Andrea
    Caputo, Viviana
    Cecchetti, Serena
    Torella, Annalaura
    Zanni, Ginevra
    Diodato, Daria
    Piermarini, Emanuela
    Niceta, Marcello
    Coppola, Antonietta
    Tedeschi, Enrico
    Martinelli, Diego
    Dionisi-Vici, Carlo
    Nigro, Vincenzo
    Dallapiccola, Bruno
    Compagnucci, Claudia
    Tartaglia, Marco
    Haase, Georg
    Bertini, Enrico
    AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 974 - 983
  • [9] Early-onset epileptic encephalopathy in a patient with SCN8A mutation
    Ortiz-Madinaveitia, Saturnino
    Luisa Serrano-Madrid, M.
    Conejo-Moreno, David
    Sagarra-Mur, Daniel
    Jimenez-Corral, Catalina
    Gutierrez-Alvarez, Angela M.
    REVISTA DE NEUROLOGIA, 2017, 65 (12) : 572 - 574
  • [10] No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families
    Imbert-Bouteille, Marion
    Corsini, Carole
    Picot, Marie-Christine
    Mizrahy, Lucas
    Akouete, Sandrine
    Huguet, Helena
    Thomas, Frederic
    Genevieve, David
    Taourel, Patrice
    Ychou, Marc
    Galibert, Virginie
    Rideau, Chloe
    Baudry, Karen
    Kubiak, Tatiana Kogut
    Coupier, Isabelle
    Hobeika, Remy
    Macary, Yvette
    Toledano, Alain
    Solassol, Jerome
    Maalouf, Antoine
    Daures, Jean-Pierre
    Pujol, Pascal
    GENES, 2021, 12 (07)
12345