Results 161 to 170 of about 48,192 (208)

Myocardial Strain Assessment by 2D Speckle-Tracking Echocardiography in Patients with Congenital Myopathy.

J Cardiovasc Echogr, 2021
Çap M, Akyüz A, Isik F, Türken A, Erdoğan E, Varsak S, Burak C, Süleymanoğlu M, Baysal E.   +8 more
europepmc   +1 more source

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

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. [PDF]

Acta Neuropathol Commun, 2020
Clayton JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D, Kijas J, Testa AC, Taylor RL, O'Hara AJ, Groth D, Ottenheijm C, Ravenscroft G, Laing NG, Nowak KJ.   +15 more
europepmc   +1 more source

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

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. [PDF]

Mol Genet Genomic Med, 2020
Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B.   +10 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