Results 171 to 180 of about 924,459 (214)

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. [PDF]

J Clin Invest, 2021
van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bönnemann CG, Ottenheijm CA.   +24 more
europepmc   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +1 more source

Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3

Proceedings of the National Academy of Sciences of the United States of America, 2016
Jeremy W. Linsley, I-Uen Hsu, L. Groom, Viktor Yarotskyy, Manuela Lavorato, Eric J. Horstick, Drew Linsley, Wen-Jia Wang, C. Franzini-armstrong, R. Dirksen, J. Y. Kuwada   +10 more
semanticscholar   +1 more source

L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. [PDF]

J Biomed Sci, 2021
Hsu PJ, Wang HD, Tseng YC, Pan SW, Sampurna BP, Jong YJ, Yuh CH.   +6 more
europepmc   +1 more source

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy. [PDF]

Glob Med Genet
Baskar D, Vengalil S, Polavarapu K, Preethish-Kumar V, Arunachal G, Sukrutha R, Bardhan M, Huddar A, Unnikrishnan G, Kulkarni GB, Chickabasaviah YT, Kumar RS, Nalini A, Nashi S.   +13 more
europepmc   +1 more source

Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes. [PDF]

Skelet Muscle
Barraza-Flores P, Moghadaszadeh B, Lee W, Isaac B, Sun L, Hickey ET, Rockowitz S, Sliz P, Beggs AH.   +8 more
europepmc   +1 more source

Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report. [PDF]

J Neuromuscul Dis
Haliloğlu G, Donkervoort S, Yıldız SÖ, Potticary A, Hu Y, Pais L, Carlier RY, Amthor H, Aydıngöz Ü, Bönnemann CG.   +9 more
europepmc   +1 more source

Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvement. [PDF]

J Med Genet
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, Marini-Bettolo C, Hundallah K, Alhashem AM, Al-Owain M, Maroofian R, Ravenscroft G, Straub V.   +16 more
europepmc   +1 more source

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism. [PDF]

Eur J Hum Genet
Rahman F, Marsili L, Pasquetti D, Rad A, Nadeem Anjum M, Oprea G, Cheema HA, Vona B, Augusto Alves C, Houlden H, Maqbool S, Efthymiou S, Smol T, Maroofian R.   +13 more
europepmc   +1 more source

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. [PDF]

Neurol Genet, 2020
Al Amrani F, Gorodetsky C, Hazrati LN, Amburgey K, Gonorazky HD, Dowling JJ.   +5 more
europepmc   +1 more source