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Select item 81041671.

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang

Mol Genet Genomic Med. 2021 Mar; 9(3): e1606. Published online 2021 Jan 29. doi: 10.1002/mgg3.1606

PMCID:: PMC8104167

Abstract Article PDF–1.3M

Select item 12261932.

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie M. May, Nancy J. Carpenter, R. Curtis Rogers, Judith Martin, Martin G. Bialer, Jewell Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto Echeverri, Herbert A. Lubs, Kytja Voeller, Richard J. Simensen, Roger E. Stevenson

Am J Hum Genet. 2005 Jul; 77(1): 41–53. Published online 2005 May 11. doi: 10.1086/431313

PMCID:: PMC1226193

Abstract Article PDF–778K

Select item 37221523.

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Ruben Attali, Sharon Aharoni, Susan Treves, Ori Rokach, Michal Becker Cohen, Yakov Fellig, Rachel Straussberg, Talya Dor, Muhannad Daana, Stella Mitrani-Rosenbaum, Yoram Nevo

PLoS One. 2013; 8(7): e69296. Published online 2013 Jul 24. doi: 10.1371/journal.pone.0069296

PMCID:: PMC3722152

Abstract Article PDF–1.3M

Select item 48707714.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

C. I. van Capelle, J. C. van der Meijden, J. M. P. van den Hout, J. Jaeken, M. Baethmann, T. Voit, M. A. Kroos, T. G. J. Derks, M. E. Rubio-Gozalbo, M. A. Willemsen, R. H. Lachmann, E. Mengel, H. Michelakakis, J. C. de Jongste, A. J. J. Reuser, A. T. van der Ploeg

Orphanet J Rare Dis. 2016; 11: 65. Published online 2016 May 18. doi: 10.1186/s13023-016-0442-y

PMCID:: PMC4870771

Abstract Article PDF–1.7M

Select item 58431895.

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins, Carlos E. Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andres Dufke, Gunnar Houge, Jeske J.T. van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C. Engle, Moebius Syndrome Research Consortium, Ethylin Wang Jabs, David Valle, John Carey, Julie E. Hoover-Fong, Nara L.M. Sobreira

Am J Med Genet A. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Am J Med Genet A. 2017 Oct; 173(10): 2763–2771. Published online 2017 Aug 4. doi: 10.1002/ajmg.a.38375

PMCID:: PMC5843189

Abstract Article PDF–447K

Select item 67522276.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, Stephanie Robb, Pinki Munot, Wei Wei Liu, Siddharth Banka, Harry Fraser, Christian De Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, Margarida Gratacos, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hans Lochmüller, Jacqueline Palace, David Beeson

Brain. 2019 Jun; 142(6): 1547–1560. Published online 2019 May 13. doi: 10.1093/brain/awz107

PMCID:: PMC6752227

Abstract Article PDF–1.2M

Select item 93100537.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant

Mrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2022 Jul 25.

Published in final edited form as: Mol Genet Metab. 2019 Feb; 126(2): 106–116. Published online 2018 Aug 23. doi: 10.1016/j.ymgme.2018.08.009

PMCID:: PMC9310053

Abstract Article PDF–458K

Select item 96042678.

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes

Int J Mol Sci. 2022 Oct; 23(20): 12367. Published online 2022 Oct 15. doi: 10.3390/ijms232012367

PMCID:: PMC9604267

Abstract Article PDF–2.6M

Select item 99170169.

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Magdalena Mroczek, Stanley Iyadurai

Int J Mol Sci. 2023 Feb; 24(3): 2260. Published online 2023 Jan 23. doi: 10.3390/ijms24032260

PMCID:: PMC9917016

Abstract Article PDF–774K

Select item 1138030910.

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

Ganaraja Valakunja Harikrishna, Hansashree Padmanabha, Kiran Polavarapu, Ram Murthy Anjanappa, Veeramani Preethish-Kumar, Bevinahalli Nanjegowda Nandeesh, Seena Vengalil, Saraswati Nashi, Dipti Baskar, Aneesha Thomas, Mainak Bardhan, Gautham Arunachal, Deepak Menon, Sai Bhargava Sanka, Nisha Manjunath, Atchayaram Nalini

J Neuromuscul Dis. 2024; 11(5): 935–957. Prepublished online 2024 Jun 29. Published online 2024 Sep 3. doi: 10.3233/JND-230021

PMCID:: PMC11380309

Abstract Article PDF–569K

Select item 1006016911.

Case report: Single-stage facial reanimation with bilateral lengthening temporalis myoplasties for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome related developmental facial palsy

Aidan M. Rose, Fiona N. Smith, Chang W. Lee, Mary Slatter, Andrew Gennery, Omar Ahmed

JPRAS Open. 2023 Jun; 36: 19–23. Published online 2023 Mar 3. doi: 10.1016/j.jpra.2023.02.003

PMCID:: PMC10060169

Abstract Article PDF–423K

Select item 914947812.

X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey

Özden Öztürk, Büşra Eser Çavdartepe, Haydar Bağış

Mol Syndromol. 2022 May; 13(3): 246–253. Published online 2022 Feb 4. doi: 10.1159/000519640

PMCID:: PMC9149478

Abstract Article PDF–340K

Select item 896769113.

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Yanbin Fan, Zhifei Xu, Xing Li, Feng Gao, Enyu Guo, Xingzhi Chang, Cuijie Wei, Cheng Zhang, Qing Yu, Chengli Que, Jiangxi Xiao, Chuanzhu Yan, Zhaoxia Wang, Yun Yuan, Hui Xiong

Front Genet. 2022; 13: 825793. Published online 2022 Mar 16. doi: 10.3389/fgene.2022.825793

PMCID:: PMC8967691

Abstract Article PDF–1.8M

Select item 1045282614.

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility

Gustavo Rodrigues Ferreira Gomes, Tamiris Carneiro Mariano, Vitor Lucas Lopes Braga, Erlane Marques Ribeiro, Ingred Pimentel Guimarães, Késia Sindy Alves Ferreira Pereira, Paulo Ribeiro Nóbrega, André Luiz Santos Pessoa

Brain Sci. 2023 Aug; 13(8): 1184. Published online 2023 Aug 10. doi: 10.3390/brainsci13081184

PMCID:: PMC10452826

Abstract Article PDF–702K

Select item 665532415.

Myotonic dystrophy associated with qt prolongation and torsade de pointes

Yuji Umeda, Uichi Ikeda, Jun Yamamoto, Hiroshi Fukazawa, Yuji Hayashi, Hideyuki Fujikawa, Kazuyuki Shimada

Clin Cardiol. 1999 Feb; 22(2): 136–138. Published online 2009 Feb 3. doi: 10.1002/clc.4960220219

PMCID:: PMC6655324

Summary PDF–279K

Select item 635218416.

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Cristina Jou, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, Rafael Artuch

J Clin Med. 2019 Jan; 8(1): 68. Published online 2019 Jan 10. doi: 10.3390/jcm8010068

PMCID:: PMC6352184

Abstract Article PDF–1.2M

Select item 1060128917.

Maternal immunoglobulin treatment can reduce severity of fetal acetylcholine receptor antibody-associated disorders (FARAD)

Matthias Wassenberg, Andreas Hahn, Anna Mück, Heidrun H. Krämer

Neurol Res Pract. 2023; 5: 58. Published online 2023 Oct 26. doi: 10.1186/s42466-023-00280-6

PMCID:: PMC10601289

Abstract Article PDF–636K

Select item 1075671618.

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy

Bhanudeep Singanamalla, Shivan Kesavan, Divya Aggarwal, Debajyoti Chatterjee, Andoni Urtizberea, Renu Suthar

J Pediatr Genet. 2023 Dec; 12(4): 318–324. Published online 2021 Jul 3. doi: 10.1055/s-0041-1731683

PMCID:: PMC10756716

Abstract Article PDF–471K

Select item 1087137819.

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement

Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan J Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Gianina Ravenscroft, Volker Straub

Version 1. medRxiv. Preprint. 2024 Feb 11. doi: 10.1101/2024.02.10.24302480

Published in:: J Med Genet. 2024 Aug; 61(10): e109970.

PMCID:: PMC10871378

Abstract Article

Select item 193675120.

Late-Onset Muscle Dystrophy: Oculopharyngoesophageal Variety

Irwin Lewis

Can Med Assoc J. 1966 Jul 23; 95(4): 146–150.

PMCID:: PMC1936751

Summary Page Browse PDF–1.3M

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