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Select item 30537531.

Multicore myopathy--a case report.

N. H. Myong, Y. K. Kang, J. G. Chi, S. I. Suk

J Korean Med Sci. 1993 Aug; 8(4): 312–317. doi: 10.3346/jkms.1993.8.4.312

PMCID:: PMC3053753

Summary PDF–7.9M

Select item 110916192.

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 110764013.

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families

Sylvia Safwat, Kyle P. Flannery, Ahmed A. El Beheiry, Mohamed M. Mokhtar, Ebtesam Abdalla, M. Chiara Manzini

Neurogenetics. 2024; 25(2): 93–102. Published online 2024 Feb 1. doi: 10.1007/s10048-024-00745-z

PMCID:: PMC11076401

Abstract Article PDF–1.1M

Select item 108743374.

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center

Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqian

Acta Neurol Belg. 2024; 124(1): 91–99. Published online 2023 Jul 31. doi: 10.1007/s13760-023-02333-8

PMCID:: PMC10874337

Abstract Article PDF–933K

Select item 108735255.

Shaping transverse-tubules: central mechanisms that play a role in the cytosol zoning for muscle contraction

Kohei Kawaguchi, Naonobu Fujita

J Biochem. 2024 Feb; 175(2): 125–131. Published online 2023 Oct 17. doi: 10.1093/jb/mvad083

PMCID:: PMC10873525

Abstract Article PDF–816K

Select item 107893666.

‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’

Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, Daniele Frattini, Alberta Leon, Stefano Giuseppe Caraffi, Marzia Pollazzon, Livia Garavelli, Francesco Pisani, Carlo Fusco

J Neuromuscul Dis. 2024; 11(1): 213–219. Prepublished online 2023 Dec 18. Published online 2024 Jan 2. doi: 10.3233/JND-230110

PMCID:: PMC10789366

Abstract Article PDF–436K

Select item 106455657.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

Annelise Y. Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie F. Smeland, Marc Planes, Kevin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, Martin A. Mensah, Henrike L. Sczakiel, Heidelis Tichy, Sarah Verheyen, Jasmin Blatterer, Elisabeth Schreiner, Jenny Thies, Christina Lam, Christine G. Spaeth, Loren Pena, Keri Ramsey, Vinodh Narayanan, Laurie H. Seaver, Diana Rodriguez, Alexandra Afenjar, Lydie Burglen, Edward B. Lee, Tsui-Fen Chou, Conrad C. Weihl, Marwan S. Shinawi

Am J Hum Genet. 2023 Nov 2; 110(11): 1959–1975. Published online 2023 Oct 25. doi: 10.1016/j.ajhg.2023.10.007

PMCID:: PMC10645565

Abstract Article PDF–3.4M

Select item 106223468.

Empfehlungen zur Versorgung von Patient:innen mit FOP

L. Seefried, D. Banholzer, R. Fischer, I. Grafe, I. Hüning, R Morhart, R. Oheim, O. Semler, H. Siggelkow, C. Stockklausner, H. Hoyer-Kuhn

Orthopadie (Heidelb) 2023; 52(11): 924–930. German. Published online 2023 Aug 21. doi: 10.1007/s00132-023-04425-y

PMCID:: PMC10622346

Abstract Article PDF–1.0M

Select item 103372829.

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene

Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng

Mol Genet Genomic Med. 2023 Jul; 11(7): e2162. Published online 2023 Mar 10. doi: 10.1002/mgg3.2162

PMCID:: PMC10337282

Abstract Article PDF–2.2M

Select item 1033727510.

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene

Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo

Mol Genet Genomic Med. 2023 Jul; 11(7): e2190. Published online 2023 Apr 25. doi: 10.1002/mgg3.2190

PMCID:: PMC10337275

Abstract Article PDF–1.1M

Select item 1024421811.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper

Hum Mol Genet. 2023 Jun 15; 32(12): 2084–2092. Published online 2023 Mar 15. doi: 10.1093/hmg/ddad035

PMCID:: PMC10244218

Abstract Article PDF–1.4M

Select item 1016156512.

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai

BMC Neurol. 2023; 23: 181. Published online 2023 May 5. doi: 10.1186/s12883-023-03225-3

PMCID:: PMC10161565

Abstract Article PDF–1.8M

Select item 1008413213.

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests

Stephanie J. Valberg, Marisa L. Henry, Keely L. Herrick, Deborah Velez‐Irizarry, Carrie J. Finno, Jessica L. Petersen

Equine Vet J. 2023 Mar; 55(2): 230–238. Published online 2022 Apr 1. doi: 10.1111/evj.13574

PMCID:: PMC10084132

Abstract Article PDF–472K

Select item 1004143214.

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

J.J. Kramer, H.T.M. Boon, Q.H. Leijten, Henk Ter Laak, L. Eshuis, B. Kusters, J.L.M. van Doorn, E.J. Kamsteeg, B. Eymard, J. Doorduin, N.C. Voermans

J Neuromuscul Dis. 2023; 10(2): 271–277. Prepublished online 2022 Dec 29. Published online 2023 Mar 7. doi: 10.3233/JND-221542

PMCID:: PMC10041432

Abstract Article PDF–818K

Select item 1003198215.

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti

Acta Neuropathol Commun. 2023; 11: 48. Published online 2023 Mar 21. doi: 10.1186/s40478-023-01539-4

PMCID:: PMC10031982

Abstract Article PDF–1.9M

Select item 988056716.

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome

Joana Pereira-Nunes, Ana Vilan, Ana Grangeia, Renata d’Oliveira

J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096221150637. Published online 2023 Jan 24. doi: 10.1177/23247096221150637

PMCID:: PMC9880567

Abstract Article PDF–909K

Select item 981109117.

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin

J Med Genet. 2023 Jan; 60(1): 65–73. Published online 2021 Dec 6. doi: 10.1136/jmedgenet-2021-108006

PMCID:: PMC9811091

Abstract Article PDF–376K

Select item 967916718.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle

Brain. 2022 Nov; 145(11): 3816–3831. Published online 2022 Jun 13. doi: 10.1093/brain/awac210

PMCID:: PMC9679167

Abstract Article PDF–1.3M

Select item 962297819.

A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis

Virginia Stringel, Peyman Bizargity, Emma Laureta, Sanjeev Kothare

J Clin Sleep Med. 2022 Nov 1; 18(11): 2695–2698. Published online 2022 Nov 1. doi: 10.5664/jcsm.10148

PMCID:: PMC9622978

Abstract Article PDF–479K

Select item 958012920.

Macroglossia and less advanced dystrophic change in the tongue muscle of the Duchenne muscular dystrophy rat

Keitaro Yamanouchi, Yukie Tanaka, Masanari Ikeda, Shizuka Kato, Ryosuke Okino, Hiroki Nishi, Fumihiko Hakuno, Shin-Ichiro Takahashi, James Chambers, Takashi Matsuwaki, Kazuyuki Uchida

Skelet Muscle. 2022; 12: 24. Published online 2022 Oct 19. doi: 10.1186/s13395-022-00307-7

PMCID:: PMC9580129

Abstract Article PDF–4.1M

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