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Items: 1 to 20 of 43

1.
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
AbstractArticlePDF–6.8M
2.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
Julian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, Tanya Stojkovic, Marion Masingue, Léo Vidoni, Emilien Bernard, Arnaud Jacquier, Laurent Schaeffer, Emmanuelle Salort-Campana, Jean-Baptiste Chanson, Aleksandra Nadaj Pakleza, Anne-Laure Kaminsky, Juliette Svahn, Véronique Manel, Françoise Bouhour, Antoine Pegat
Eur J Hum Genet. 2024 Jan; 32(1): 37–43. Published online 2023 Jun 19. doi: 10.1038/s41431-023-01407-8
PMCID:
PMC10772122
AbstractArticlePDF–546K
3.
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders
Pitcha Chompoopong, Margherita Milone
Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372
PMCID:
PMC9956253
AbstractArticlePDF–10M
4.
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
AbstractArticlePDF–376K
5.
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy
Megan E. Forrest, Alayne P. Meyer, Stephanie M. Laureano Figueroa, Anthony Antonellis
Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006246. doi: 10.1101/mcs.a006246
PMCID:
PMC9808560
AbstractArticlePDF–1.9M
6.
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report
Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, Marc Hermier, Rita Menassa, Laurent Coudert, Julian Theuriet, Roseline Froissart, Sophie Terrone, Francoise Bouhour, Laurence Michel-Calemard, Laurent Schaeffer, Arnaud Jacquier
Genes (Basel) 2022 Dec; 13(12): 2245. Published online 2022 Nov 29. doi: 10.3390/genes13122245
PMCID:
PMC9777698
AbstractArticlePDF–915K
7.
Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
Bruno Lamanna, Marina Vinciguerra, Miriam Dellino, Gabriele Cascella, Gerardo Cazzato, Enrica Macorano, Antonio Malvasi, Salvatore Scacco, Ettore Cicinelli, Vera Loizzi, Antonella Vimercati, Gennaro Cormio, Francesco Paduano, Eliano Cascardi, Marco Tatullo
Int J Mol Sci. 2022 Nov; 23(22): 14408. Published online 2022 Nov 19. doi: 10.3390/ijms232214408
PMCID:
PMC9692496
AbstractArticlePDF–640K
8.
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
AbstractArticlePDF–2.2M
9.
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
AbstractArticlePDF–758K
10.
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
AbstractArticlePDF–458K
11.
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
AbstractArticlePDF–1.1M
12.
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
AbstractArticlePDF–1.0M
13.
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
AbstractArticlePDF–654K
14.
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
BMC Musculoskelet Disord. 2021; 22: 1020. Published online 2021 Dec 4. doi: 10.1186/s12891-021-04920-3
PMCID:
PMC8645139
AbstractArticlePDF–1.1M
15.
A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation
Yo-suke Nishii, Yu-ichi Noto, Rei Yasuda, Takamasa Kitaoji, Shinji Ashida, Eijirou Tanaka, Narihiro Minami, Ichizo Nishino, Toshiki Mizuno
BMC Neurol. 2021; 21: 265. Published online 2021 Jul 5. doi: 10.1186/s12883-021-02300-x
PMCID:
PMC8256512
AbstractArticlePDF–1.5M
16.
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
AbstractArticlePDF–174K
17.
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
AbstractArticlePDF–2.3M
18.
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
Aashim Bhatia, Bret C. Mobley, Joy Cogan, Mary E. Koziura, Elly Brokamp, John Phillips, John Newman, Undiagnosed Diseases Network (UDN), Steven A. Moore, Rizwan Hamid, Undiagnosed Diseases Network
Clin Imaging. Author manuscript; available in PMC 2019 Dec 5.
Published in final edited form as: Clin Imaging. 2019 Nov-Dec; 58: 108–113. Published online 2019 Jun 21. doi: 10.1016/j.clinimag.2019.06.010
PMCID:
PMC6893088
AbstractArticlePDF–946K
19.
A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report
Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo, Xiaoxin Tong
BMC Neurol. 2019; 19: 198. Published online 2019 Aug 17. doi: 10.1186/s12883-019-1410-7
PMCID:
PMC6697925
AbstractArticlePDF–1.6M
20.
Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T
Wo‐Tu Tian, Hai‐Yan Zhou, Fei‐Xia Zhan, Ze‐Yu Zhu, Jie Yang, Sheng‐Di Chen, Xing‐Hua Luan, Li Cao
Ann Clin Transl Neurol. 2019 Jun; 6(6): 1062–1071. Published online 2019 May 8. doi: 10.1002/acn3.787
PMCID:
PMC6562035
AbstractArticlePDF–6.7M

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