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Items: 1 to 20 of 101

1.
Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies
Petra Hnilicova, Marian Grendar, Monika Turcanova Koprusakova, Alzbeta Trancikova Kralova, Jana Harsanyiova, Martin Krssak, Ivica Just, Nadezda Misovicova, Martina Hikkelova, Jan Grossmann, Peter Spalek, Iveta Meciarova, Egon Kurca, Norbert Zilka, Kamil Zelenak, Wolfgang Bogner, Martin Kolisek
Sci Rep. 2024; 14: 19267. Published online 2024 Aug 20. doi: 10.1038/s41598-024-69966-4
PMCID:
PMC11336102
AbstractArticlePDF–9.6M
2.
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
T. Weiler, C. R. Greenberg, E. Nylen, W. Halliday, K. Morgan, D. Eggertson, K. Wrogemann
Am J Hum Genet. 1996 Oct; 59(4): 872–878.
PMCID:
PMC1914810
SummaryPage BrowsePDF–1.0M
3.
Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene
Hyun-Jung Cho, Duck Hyun Sung, Eun-Jin Kim, Chul Ho Yoon, Chang-Seok Ki, Jong-Won Kim
J Korean Med Sci. 2006 Aug; 21(4): 724–727. Published online 2006 Aug 22. doi: 10.3346/jkms.2006.21.4.724
PMCID:
PMC2729898
AbstractArticlePDF–128K
4.
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance
E Ryoung Choi, Sung-Ji Park, Yeon Hyeon Choe, Dong Ryeol Ryu, Sung-A Chang, Jin-Oh Choi, Sang-Chol Lee, Seung Woo Park, Byoung Joon Kim, Duk-Kyung Kim, Jae K Oh
J Cardiovasc Magn Reson. 2010; 12(1): 31. Published online 2010 May 24. doi: 10.1186/1532-429X-12-31
PMCID:
PMC2887439
AbstractArticlePDF–669K
5.
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
Clemens Neusch, Tanja Kuhlmann, Wolfram Kress, Christiane Schneider-Gold
J Med Case Rep. 2012; 6: 345. Published online 2012 Oct 10. doi: 10.1186/1752-1947-6-345
PMCID:
PMC3485111
AbstractArticlePDF–744K
6.
Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro
Akihito Tanaka, Knut Woltjen, Katsuya Miyake, Akitsu Hotta, Makoto Ikeya, Takuya Yamamoto, Tokiko Nishino, Emi Shoji, Atsuko Sehara-Fujisawa, Yasuko Manabe, Nobuharu Fujii, Kazunori Hanaoka, Takumi Era, Satoshi Yamashita, Ken-ichi Isobe, En Kimura, Hidetoshi Sakurai
PLoS One. 2013; 8(4): e61540. Published online 2013 Apr 23. doi: 10.1371/journal.pone.0061540
Correction in:
PLoS One. 2013; 8(12): 10.1371/annotation/63972dc9-3a31-43d0-ad52-bc46fd948c03.
PMCID:
PMC3633995
AbstractArticlePDF–2.1M
7.
Calf heads on a trophy sign: Miyoshi myopathy
M. Mundayadan Shyma, P. Sreedharan Roopchand, K. Mohan Ram, C. Velayudhan Shaji
J Neurosci Rural Pract. 2015 Jul-Sep; 6(3): 428–430. doi: 10.4103/0976-3147.158798
PMCID:
PMC4481807
AbstractArticle
8.
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Renata Siciliani Scalco, Paulo José Lorenzoni, David S. Lynch, William Alves Martins, Heinz Jungbluth, Ros Quinlivan, Jefferson Becker, Henry Houlden
Am J Case Rep. 2017; 18: 17–21. Published online 2017 Jan 5. doi: 10.12659/AJCR.900970
PMCID:
PMC5228759
AbstractArticlePDF–436K
9.
Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy
Muhammad I. Ullah, Arsalan Ahmad, Milena Žarković, Syed S. Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A. Hübner, Muhammad J. Hassan
Saudi Med J. 2017 Dec; 38(12): 1190–1195. doi: 10.15537/smj.2017.12.20989
PMCID:
PMC5787628
AbstractArticlePDF–1.8M
10.
A Case of Obsessive–Compulsive Disorder Comorbid with Miyoshi Myopathy
Arpit Parmar, Rohit Verma
Indian J Psychol Med. 2018 Jan-Feb; 40(1): 86–88. doi: 10.4103/IJPSYM.IJPSYM_1_17
PMCID:
PMC5795685
AbstractArticlePDF–361K
11.
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
AbstractArticlePDF–215K
12.
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
AbstractArticlePDF–697K
13.
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev
BMC Musculoskelet Disord. 2024; 25: 146. Published online 2024 Feb 16. doi: 10.1186/s12891-024-07270-y
PMCID:
PMC10870593
AbstractArticlePDF–2.0M
14.
Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene
Grace Bryant, Steven A. Moore, James S. Nix, Grace Rice, Murat Gokden, Aravindhan Veerapandiyan
Child Neurol Open. 2022 Jan-Dec; 9: 2329048X221140298. Published online 2022 Nov 16. doi: 10.1177/2329048X221140298
PMCID:
PMC9677140
AbstractArticlePDF–5.3M
15.
Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report
Alex S. Aguirre, Vanessa I. Romero
Heliyon. 2024 Aug 15; 10(15): e35333. Published online 2024 Jul 27. doi: 10.1016/j.heliyon.2024.e35333
PMCID:
PMC11336582
AbstractArticlePDF–1.4M
16.
Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family
Feng Zhu, Fengxiao Zhang, Lizhi Hu, Haowen Liu, Yahua Li
Front Genet. 2021; 12: 672906. Published online 2021 Jul 2. doi: 10.3389/fgene.2021.672906
PMCID:
PMC8283672
AbstractArticlePDF–3.0M
17.
Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review
Joonhong Park, Young Jae Moon, Dal Sik Kim
Genes (Basel) 2023 Jan; 14(1): 200. Published online 2023 Jan 12. doi: 10.3390/genes14010200
PMCID:
PMC9859596
AbstractArticlePDF–963K
18.
Atypical Miyoshi distal myopathy: A case report
Meiling Wang, Yujie Guo, Yong Fu, Rui Jia, Gang Chen
Exp Ther Med. 2016 Nov; 12(5): 3068–3072. Published online 2016 Sep 20. doi: 10.3892/etm.2016.3716
PMCID:
PMC5103748
AbstractArticlePDF–581K
19.
Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos
Joanna May S Quilacio, Raymond L Rosales, Encarnita R Ampil
Cureus. 2022 Jan; 14(1): e21353. Published online 2022 Jan 18. doi: 10.7759/cureus.21353
PMCID:
PMC8853928
AbstractArticlePDF–393K
20.
Coupling of excitation to Ca2+ release is modulated by dysferlin
Valeriy Lukyanenko, Joaquin M. Muriel, Robert J. Bloch
J Physiol. 2017 Aug 1; 595(15): 5191–5207. Published online 2017 Jun 26. doi: 10.1113/JP274515
PMCID:
PMC5538227
AbstractArticlePDF–1.3M

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