PMC Articles for MedGen (Select 155852) - PMC

Salvo Danilo Lombardo, Emanuela Mazzon, Katia Mangano, Maria Sofia Basile, Eugenio Cavalli, Santa Mammana, Paolo Fagone, Ferdinando Nicoletti, Maria Cristina Petralia

Genes (Basel) 2019 Nov; 10(11): 939. Published online 2019 Nov 18. doi: 10.3390/genes10110939

PMCID:: PMC6896047

Abstract Article PDF–1.6M

Select item 48261376.

Myotonia congenita: novel mutations in CLCN1 gene

Xiao-Li Liu, Xiao-Jun Huang, Jun-Yi Shen, Hai-Yan Zhou, Xing-Hua Luan, Tian Wang, Sheng-Di Chen, Ying Wang, Hui-Dong Tang, Li Cao

Channels (Austin) 2015 Sep-Oct; 9(5): 292–298. Published online 2015 Aug 11. doi: 10.1080/19336950.2015.1075676

PMCID:: PMC4826137

Abstract Article PDF–456K

Select item 45345137.

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Simona Portaro, Concetta Altamura, Norma Licata, Giulia M. Camerino, Paola Imbrici, Olimpia Musumeci, Carmelo Rodolico, Diana Conte Camerino, Antonio Toscano, Jean-François Desaphy

Neuromolecular Med. 2015; 17(3): 285–296. Published online 2015 May 26. doi: 10.1007/s12017-015-8356-8

PMCID:: PMC4534513

Abstract Article PDF–1.8M

Select item 40696998.

Focal and abnormally persistent paralysis associated with congenital paramyotonia

Armelle Magot, Albert David, Damien Sternberg, Yann Péréon

BMJ Case Rep. 2014; 2014: bcr2014204430. Published online 2014 Jun 17. doi: 10.1136/bcr-2014-204430

PMCID:: PMC4069699

Abstract Article PDF–1.1M

Select item 38596319.

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

PLoS One. 2013; 8(12): e82549. Published online 2013 Dec 11. doi: 10.1371/journal.pone.0082549

PMCID:: PMC3859631

Abstract Article PDF–509K

Select item 101582510.

Schwartz-Jampel syndrome (chondrodystrophic myotonia).

D Viljoen, P Beighton

J Med Genet. 1992 Jan; 29(1): 58–62. doi: 10.1136/jmg.29.1.58

PMCID:: PMC1015825

Summary Page Browse PDF–1.8M

Select item 1109161911.

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

Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, Anna Codina, Carlos Ortez, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Janet Hoenicka, Cristina Jou, Francesc Palau, Sergi Beltran, Hanns Lochmüller, Ana Töpf, Andrés Nascimento, Daniel Natera-de Benito

J Neuromuscul Dis. 2024; 11(3): 647–653. Prepublished online 2024 Mar 10. Published online 2024 Apr 30. doi: 10.3233/JND-230216

PMCID:: PMC11091619

Abstract Article PDF–1.3M

Select item 1109155912.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-François Desaphy

J Neuromuscul Dis. 2024; 11(3): 725–734. Prepublished online 2024 Mar 1. Published online 2024 Apr 30. doi: 10.3233/JND-230134

PMCID:: PMC11091559

Abstract Article PDF–1.2M

Select item 1057825213.

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children

Gökçen Öz Tunçer, Aslıhan Sanri, Seren Aydin, Özlem M. Hergüner, Nezir Özgün, Mustafa Kömür, Dilara F. İçağasioğlu, Rabia Tütüncü Toker, Sanem Yilmaz, Elif Acar Arslan, Mesut Güngör, Gültekin Kutluk, İlknur Erol, Gülen Gül Mert, Burçin Gönüllü Polat, Ayşe Aksoy

J Neuromuscul Dis. 2023; 10(5): 915–924. Prepublished online 2023 Jun 16. Published online 2023 Sep 8. doi: 10.3233/JND-230046

PMCID:: PMC10578252

Abstract Article PDF–202K

Select item 1037923514.

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini

Genes (Basel) 2023 Jul; 14(7): 1363. Published online 2023 Jun 28. doi: 10.3390/genes14071363

PMCID:: PMC10379235

Abstract Article PDF–3.4M

Select item 1036406915.

Miotonía congénita. Incidencia y presentación de una serie de casos

María F. Martos-Lirio, Rocío Calvo-Medina, César Ruiz-García, José M. Ramos-Fernández

Rev Neurol. 2023; 76(4): 147–150. Spanish. Published online 2023 Feb 16. doi: 10.33588/rn.7604.2021357

PMCID:: PMC10364069

Abstract Article PDF–594K

Select item 1033139116.

A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog

Natielly D. Chimenes, Silvana M. Caramalac, Simone M. Caramalac, Thiago D. Fernandes, Roberta M. Basso, Fabrício M. Cerri, José P. Oliveira-Filho, Alexandre S. Borges, Mariana I. P. Palumbo

J Vet Diagn Invest. 2023 Jul; 35(4): 413–416. Published online 2023 May 22. doi: 10.1177/10406387231176736

Correction in:: J Vet Diagn Invest. 2023 Nov; 35(6): 811–812.

PMCID:: PMC10331391

Abstract Article PDF–853K

Select item 1013456917.

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report

João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues

BMC Neurol. 2023; 23: 171. Published online 2023 Apr 27. doi: 10.1186/s12883-023-03195-6

PMCID:: PMC10134569

Abstract Article PDF–1.1M

Select item 962879918.

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

Carolina Croci, Monica Traverso, Serena Baratto, Michele Iacomino, Marina Pedemonte, Francesco Caroli, Marcello Scala, Claudio Bruno, Chiara Fiorillo

Acta Myol. 2022; 41(3): 111–116. Published online 2022 Sep 30. doi: 10.36185/2532-1900-076

PMCID:: PMC9628799

Abstract Article PDF–234K

Select item 956946719.

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof

Int J Mol Sci. 2022 Oct; 23(19): 11995. Published online 2022 Oct 9. doi: 10.3390/ijms231911995

PMCID:: PMC9569467

Abstract Article PDF–1.7M

Select item 930872720.

Non-Dystrophic Myotonia: 2-year clinical and patient reported outcomes

Timothy R. Fullam, Swathy Chandrashekhar, Constantine Farmakidis, Omar Jawdat, Mamatha Pasnoor, Mazen M. Dimachkie, Jeffrey M. Statland, CINCH Consortium

Muscle Nerve. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Muscle Nerve. 2022 Aug; 66(2): 148–158. Published online 2022 Jun 16. doi: 10.1002/mus.27649