Results 171 to 180 of about 38,417 (217)

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient. [PDF]

Neurol Genet, 2020
Mihaylova V, Chablais F, Herenger Y, Spiegel R, Heinrich Jung H.   +4 more
europepmc   +1 more source

Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis. [PDF]

Front Neurol
Aburahma SK, Rousan LA, Shboul M, Biella F, Lucchiari S, Comi GP, Meola G, Pagliarani S.   +7 more
europepmc   +1 more source

Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy. [PDF]

Hum Mol Genet
Liu Y, Lin W.
europepmc   +1 more source

Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln¹⁴⁷Pro Tropomyosin. [PDF]

Int J Mol Sci, 2020
Karpicheva OE, Simonyan AO, Rysev NA, Redwood CS, Borovikov YS.   +4 more
europepmc   +1 more source

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy

: BackgroundAlpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability.
Gallano, Pia, Diaz-Manera, Jordi, Iruzubieta, Pablo, Verdu-Diaz, Jose, Martin-Jimenez, Paloma, Poza, Juan Jose, De Ridder, Willem, Duff, Jennifer, Dominguez-Gonzalez, Cristina, Zulaica, Miren, Fernandez-Torron, Roberto, Claeys, Kristl G., Straub, Volker, Luce, Leonela, Gonzalez-Quereda, Lidia, Baets, Jonathan, Topf, Ana, Mroczek, Magdalena, De Jonghe, Peter, Hernandez-Lain, Aurelio, de Munain, Adolfo Lopez, de Fuenmayor-fernandez de la Hoz, Carlos Pablo   +21 more
core  

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India. [PDF]

J Neuromuscul Dis
Harikrishna GV, Padmanabha H, Polavarapu K, Anjanappa RM, Preethish-Kumar V, Nandeesh BN, Vengalil S, Nashi S, Baskar D, Thomas A, Bardhan M, Arunachal G, Menon D, Sanka SB, Manjunath N, Nalini A.   +15 more
europepmc   +1 more source

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series. [PDF]

J Neuromuscul Dis
Bouman K, van den Heuvel FMA, Evertz R, Boesaard E, Groothuis JT, van Engelen BGM, Nijveldt R, Erasmus CE, Udink Ten Cate FEA, Voermans NC.   +9 more
europepmc   +1 more source

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. [PDF]

J Neuromuscul Dis
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D.   +15 more
europepmc   +1 more source

Prevalence and phenotypes of congenital myopathy due to α‐actin 1 gene mutations

Muscle and Nerve, 2016
INTRODUCTION: Congenital myopathy due to mutations in the α-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking.METHODS: A national cohort of 91 patients aged ≥5 years and ...
Nanna Witting, Ulla Werlauff, John Vissing   +2 more
exaly   +2 more sources

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

Neuromuscular Disorders, 2014
The spectrum of RYR1 mutation associated disease encompasses congenital myopathies, exercise induced rhabdomyolysis, malignant hyperthermia susceptibility and King-Denborough syndrome.
M Main, C A Sewry, S A Robb
exaly   +2 more sources