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Select item 110000731.

GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali

Abdoulaye Yalcouyé, Seybou H. Diallo, Lassana Cissé, Mamadou Karembé, Salimata Diallo, Thomas Coulibaly, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth H. Fischbeck, Ambroise Wonkam, Guida Landouré, The H3Africa Consortium

J Peripher Nerv Syst. Author manuscript; available in PMC 2024 Apr 8.

Published in final edited form as: J Peripher Nerv Syst. 2022 Jun; 27(2): 113–119. Published online 2022 Apr 5. doi: 10.1111/jns.12486

PMCID:: PMC11000073

Article PDF–695K

Select item 109632962.

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network , Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann

Ann Clin Transl Neurol. 2024 Mar; 11(3): 629–640. Published online 2024 Feb 4. doi: 10.1002/acn3.51983

PMCID:: PMC10963296

Article PDF–6.8M

Select item 108833253.

Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature

Sara Massucco, Chiara Gemelli, Emilia Bellone, Alessandro Geroldi, Serena Patrone, Paola Mandich, Elena Scarsi, Elena Faedo, Lucio Marinelli, Tiziana Mongini, Monica Traverso, Serena Baratto, Angelo Schenone, Chiara Fiorillo, Marina Grandis

Acta Myol. 2023; 42(4): 113–117. Published online 2023 Dec 20. doi: 10.36185/2532-1900-323

PMCID:: PMC10883325

Article PDF–333K

Select item 103822694.

Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy

Fuze Zheng, Liangliang Qiu, Long Chen, Ying Zheng, Xiaodan Lin, Junjie He, Xin Lin, Qifang He, Yuhua Lin, Lin Lin, Lili Wang, Feng Lin, Kang Yang, Minting Lin, Yi Lin, Ying Fu, Ning Wang, Zhiqiang Wang

Neurology. 2023 Jul 18; 101(3): e225–e237. doi: 10.1212/WNL.0000000000207418

PMCID:: PMC10382269

Article PDF–867K

Select item 100953735.

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants

Andreas Unger, Andreas Roos, Andrea Gangfuß, Andreas Hentschel, Dieter Gläser, Karsten Krause, Kristina Doering, Ulrike Schara-Schmidt, Sabine Hoffjan, Matthias Vorgerd, Anne-Katrin Güttsches

Int J Mol Sci. 2023 Apr; 24(7): 6808. Published online 2023 Apr 6. doi: 10.3390/ijms24076808

PMCID:: PMC10095373

Article PDF–2.8M

Select item 98965946.

The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy

Eleonora Diella, Antonella LoMauro, Morena Delle Fave, Rossella Cima, Maria Grazie D’Angelo

Acta Myol. 2022; 41(4): 207–211. Published online 2022 Dec 31. doi: 10.36185/2532-1900-084

PMCID:: PMC9896594

Article PDF–376K

Select item 96646097.

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2

Carola Hedberg-Oldfors, Ólöf Elíasdóttir, Mats Geijer, Christopher Lindberg, Anders Oldfors

BMC Neurol. 2022; 22: 428. Published online 2022 Nov 15. doi: 10.1186/s12883-022-02935-4

PMCID:: PMC9664609

Article PDF–2.2M

Select item 95253408.

Anästhesie bei einer thoraxchirurgischen Patientin mit kongenitaler Muskeldystrophie Typ Ullrich

Thomas Hachenberg, Thorsten Walles, Eva Lücke, Thomas Schilling

Anaesthesiologie. 2022; 71(10): 784–788. German. Published online 2022 May 30. doi: 10.1007/s00101-022-01124-9

PMCID:: PMC9525340

Article PDF–758K

Select item 94263819.

Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report

Jason Katz, Anatalia Labilloy, Andrew Lee

BMC Pediatr. 2022; 22: 515. Published online 2022 Aug 30. doi: 10.1186/s12887-022-03561-2

PMCID:: PMC9426381

Article PDF–790K

Select item 920821010.

Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review

Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco, Vicente Baca

BMC Med Genomics. 2022; 15: 139. Published online 2022 Jun 20. doi: 10.1186/s12920-022-01284-y

PMCID:: PMC9208210

Article PDF–1.1M

Select item 901475111.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera

Brain. 2022 Feb; 145(2): 596–606. Published online 2021 Sep 13. doi: 10.1093/brain/awab301

PMCID:: PMC9014751

Article PDF–1.0M

Select item 896853212.

Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)

Iqra Aziz, Mark Davis, Christina Liang

BMJ Case Rep. 2022; 15(3): e248297. Published online 2022 Mar 29. doi: 10.1136/bcr-2021-248297

PMCID:: PMC8968532

Article PDF–654K

Select item 842665313.

Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report

Hai-Yan Yan, Ya-Nan Xie, Jing-Zhe Han, Xue-Qin Song

J Musculoskelet Neuronal Interact. 2021; 21(3): 397–400.

PMCID:: PMC8426653

Article PDF–697K

Select item 829132314.

A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy

Sandra Ganchinho Lucas, Inês Vieira Santos, Filipe Jorge Pencas Alfaiate, Ireneia Lino

BMJ Case Rep. 2021; 14(7): e242341. Published online 2021 Jul 19. doi: 10.1136/bcr-2021-242341

PMCID:: PMC8291323

Article PDF–215K

Select item 827088515.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Manu Jokela, Annalaura Torella, Giulio Piluso, Edith Said, Norbert Vella, Marija Cauchi, Armelle Magot, Francesca Magri, Eleonora Mauri, Cornelia Kornblum, Jens Reimann, Tanya Stojkovic, Norma B. Romero, Helena Luque, Sanna Huovinen, Päivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bjarne Udd

Acta Neuropathol. 2021; 142(2): 375–393. Published online 2021 May 11. doi: 10.1007/s00401-021-02319-x

PMCID:: PMC8270885

Article PDF–2.9M

Select item 816486116.

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

Jiaxi Yu, Xing‐hua Luan, Meng Yu, Wei Zhang, He Lv, Li Cao, Lingchao Meng, Min Zhu, Binbin Zhou, Xiao‐rong Wu, Pidong Li, Qiang Gang, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Sheng Yao, Yun Yuan, Jianwen Deng, Daojun Hong, Zhaoxia Wang

Ann Clin Transl Neurol. 2021 Jun; 8(6): 1330–1342. Published online 2021 May 4. doi: 10.1002/acn3.51371

PMCID:: PMC8164861

Article PDF–6.0M

Select item 816485517.

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

Lior Greenbaum, Merav Ben‐David, Vera Nikitin, Orna Gera, Ortal Barel, Adi Hersalis‐Eldar, Jana Shamash, Noam Shimshoviz, Haike Reznik‐Wolf, Mordechai Shohat, Dan Dominissini, Elon Pras, Amir Dori

Ann Clin Transl Neurol. 2021 Jun; 8(6): 1260–1268. Published online 2021 May 11. doi: 10.1002/acn3.51362

PMCID:: PMC8164855

Article PDF–1.2M

Select item 795599818.

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis

Milan Zimmermann, Natalie Deininger, Sophia Willikens, Tobias B. Haack, Kathrin Grundmann-Hauser, Berthold Streubel, Melanie Schreiber, Holger Lerche, Alexander Grimm

Neurol Sci. 2021; 42(4): 1523–1525. Published online 2020 Nov 13. doi: 10.1007/s10072-020-04896-3

PMCID:: PMC7955998

Article PDF–174K

Select item 778342719.

Panorama of the distal myopathies

Marco Savarese, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Mridul Johari, Salla Rusanen, Peter Hackman, Bjarne Udd

Acta Myol. 2020 Dec; 39(4): 245–265. Published online 2020 Dec 1. doi: 10.36185/2532-1900-028

PMCID:: PMC7783427

Article PDF–268K

Select item 746678720.

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

Xuelin Feng, Jinlang Wu, Wenbiao Xian, Bing Liao, Songjie Liao, Xiaoli Yao, Weixi Zhang

BMC Musculoskelet Disord. 2020; 21: 588. Published online 2020 Sep 1. doi: 10.1186/s12891-020-03616-4

PMCID:: PMC7466787

Article PDF–2.3M

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