The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

被引：51
作者：
Benarroch, Louise [1 ]
Bonne, Gisele [1 ]
Rivier, Francois [2 ]
Hamroun, Dalil [3 ]
机构：
[1] Sorbonne Univ, INSERM UMRS 974, Ctr Rech Myol, Inst Myol,GH Pitie Salpetriere, Paris, France
[2] Univ Montpellier, Neuropediat & CR Malad Neuromusculaires, CHU Montpellier, U1046 INSERM,UMR9214 CNRS, Montpellier, France
[3] CHRU Montpellier, Hop La Colombiere, Direct Rech & Innovat, Montpellier, France
来源：
NEUROMUSCULAR DISORDERS | 2019年 / 29卷 / 12期
关键词：
LOSS-OF-FUNCTION; UBIQUINONE DEFICIENCY; RECESSIVE MUTATIONS; POLG MUTATIONS; MITOCHONDRIAL; MYOPATHY; ARTHROGRYPOSIS; DOMINANT; DISEASE; ATROPHY;
D O I：
10.1016/j.nmd.2019.10.010
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：980 / 1018
页数：39
相关论文
共 92 条
[1]   New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy [J].
Al-Tahan, Sejad ;
Weiss, Lan ;
Yu, Howard ;
Tang, Sha ;
Saporta, Mario ;
Vihola, Anna ;
Mozaffar, Tahseen ;
Udd, Bjarne ;
Kimonis, Virginia .
NEUROLOGY-GENETICS, 2019, 5 (04)
[2]   Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum [J].
Alkhunaizi, Ebba ;
Shuster, Shirley ;
Shannon, Patrick ;
Siu, Victoria Mok ;
Darilek, Sandra ;
Mohila, Carrie A. ;
Boissel, Sarah ;
Ellezam, Benjamin ;
Fallet-Bianco, Catherine ;
Laberge, Anne-Marie ;
Zandberg, Julianne ;
Injeyan, Marie ;
Hazrati, Lili-Naz ;
Hamdan, Fadi ;
Chitayat, David .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (03) :386-396
[3]   A new family with transportinopathy: increased clinical heterogeneity [J].
Angelini, Corrado ;
Marozzo, Roberta ;
Pinzan, Elena ;
Pegoraro, Valentina ;
Molnar, Maria Judit ;
Torella, Annalaura ;
Nigro, Vincenzo .
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS, 2019, 12
[4]  
[Anonymous], BRAIN
[5]  
[Anonymous], ANN M AM SOC HUM GEN
[6]  
[Anonymous], 2019, ANN NEUROL
[7]  
[Anonymous], NEUROGENETICS
[8]  
[Anonymous], GENET MED
[9]  
[Anonymous], HUM MOL GENET
[10]  
[Anonymous], HUM MUTAT
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