neuromuscular diseases

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
Richard J L F Lemmers, Patrick J van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne Goselink, Stephen J Tapscott, Nicol C Voermans, Rabi Tawil, George W A M Padberg, Baziel GM van Engelen, Silvère M van der Maarel

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107041; DOI: 10.1136/jmedgenet-2020-107041
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107166; DOI: 10.1136/jmedgenet-2020-107166
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA^Trp and remarkable mitochondrial dysfunction
Kunqian Ji, Yan Lin, Xuebi Xu, Wei Wang, Dongdong Wang, Chen Zhang, Wei Li, Yuying Zhao, Chuanzhu Yan

Journal of Medical Genetics Nov 2020, jmedgenet-2020-107323; DOI: 10.1136/jmedgenet-2020-107323
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
Huahua Zhong, Yiming Zheng, Zhe Zhao, Pengfei Lin, Jianying Xi, Wenhua Zhu, Jie Lin, Jun Lu, Meng Yu, Wei Zhang, He Lv, Chuanzhu Yan, Jing Hu, Zhaoxia Wang, Jiahong Lu, Chongbo Zhao, Yun Yuan, Sushan Luo

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107159; DOI: 10.1136/jmedgenet-2020-107159
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances

Journal of Medical Genetics Sep 2020, jmedgenet-2019-106714; DOI: 10.1136/jmedgenet-2019-106714
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
Zhiying Xie, Chengyue Sun, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Gao Wang, Diana M Cornejo-Sanchez, Thashi Bharadwaj, Jin Yan, Lingxiang Zhang, Nicolas Pineda-Trujillo, Wei Zhang, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107113; DOI: 10.1136/jmedgenet-2020-107113

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neuromuscular diseases