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Items: 16

Select item 53715571.

Hip region muscular dystrophy and emergence of motor deficits in dysferlin‐deficient Bla/J mice

Nadia Nagy, Randal J. Nonneman, Telmo Llanga, Catherine F. Dial, Natallia V. Riddick, Tom Hampton, Sheryl S. Moy, Kimmo K. Lehtimäki, Toni Ahtoniemi, Jukka Puoliväli, Hillarie Windish, Douglas Albrecht, Isabelle Richard, Matthew L. Hirsch

Physiol Rep. 2017 Mar; 5(6): e13173. Published online 2017 Mar 21. doi: 10.14814/phy2.13173

PMCID:: PMC5371557

Abstract Article PDF–2.1M

Select item 94966122.

The Expanding Spectrum of Dystrophinopathies: HyperCKemia to Manifest Female Carriers

Renu Suthar, Shivan Kesavan, Indar K Sharawat, Manisha Malviya, Titiksha Sirari, Bhupendra K Sihag, Arushi G Saini, Vishalavath Jyothi, Naveen Sankhyan

J Pediatr Neurosci. 2021 Jul-Sep; 16(3): 206–211. Published online 2021 Jul 2. doi: 10.4103/jpn.JPN_89_20

PMCID:: PMC9496612

Abstract Article

Select item 88374113.

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini

Glob Med Genet. 2022 Mar; 9(1): 34–41. Published online 2021 Nov 9. doi: 10.1055/s-0041-1736567

PMCID:: PMC8837411

Abstract Article PDF–361K

Select item 85991114.

Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report

Juan Carlos López-Hernández, Javier A Galnares-Olalde, Edmar Benitez-Alonso, Raul E Alcalá, Edwin Steven Vargas-Cañas

Cureus. 2021 Oct; 13(10): e18873. Published online 2021 Oct 18. doi: 10.7759/cureus.18873

PMCID:: PMC8599111

Abstract Article PDF–279K

Select item 74597815.

Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related

Du Hwan Kim, Dae-Hyun Jang, Ja-Hyun Jang

Diagnostics (Basel) 2020 Aug; 10(8): 530. Published online 2020 Jul 29. doi: 10.3390/diagnostics10080530

PMCID:: PMC7459781

Abstract Article PDF–2.1M

Select item 72513906.

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt

Mol Genet Metab Rep. 2020 Sep; 24: 100597. Published online 2020 May 24. doi: 10.1016/j.ymgmr.2020.100597

PMCID:: PMC7251390

Abstract Article PDF–1.3M

Select item 66204537.

Progression of GNE Myopathy Based on the Patient-Reported Outcome

Young-Eun Park, Dae-Seong Kim, Young-Chul Choi, Jin-Hong Shin

J Clin Neurol. 2019 Jul; 15(3): 275–284. Published online 2019 Apr 2. doi: 10.3988/jcn.2019.15.3.275

Correction in:: J Clin Neurol. 2020 Jul; 16(3): 518.

PMCID:: PMC6620453

Abstract Article PDF–441K

Select item 65585328.

A new family with transportinopathy: increased clinical heterogeneity

Corrado Angelini, Roberta Marozzo, Elena Pinzan, Valentina Pegoraro, Maria Judit Molnar, Annalaura Torella, Vincenzo Nigro

Ther Adv Neurol Disord. 2019; 12: 1756286419850433. Published online 2019 Jun 9. doi: 10.1177/1756286419850433

PMCID:: PMC6558532

Abstract Article PDF–750K

Select item 109413569.

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study

Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium

BMC Neurol. 2024; 24: 96. Published online 2024 Mar 15. doi: 10.1186/s12883-024-03588-1

PMCID:: PMC10941356

Abstract Article PDF–1.2M

Select item 995709710.

Loss of calpain3b in Zebrafish, a Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity

Sergey V. Prykhozhij, Lucia Caceres, Kevin Ban, Anna Cordeiro-Santanach, Kanneboyina Nagaraju, Eric P. Hoffman, Jason N. Berman

Genes (Basel) 2023 Feb; 14(2): 492. Published online 2023 Feb 15. doi: 10.3390/genes14020492

PMCID:: PMC9957097

Abstract Article PDF–5.6M

Select item 942983311.

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

Sonja Strang-Karlsson, Katherine Johnson, Ana Töpf, Liwen Xu, Monkol Lek, Daniel G. MacArthur, Olivera Casar-Borota, Maria Williams, Volker Straub, Carina Wallgren-Pettersson

Neuromuscul Disord. Author manuscript; available in PMC 2022 Aug 31.

Published in final edited form as: Neuromuscul Disord. 2018 Jul; 28(7): 614–618. Published online 2018 May 16. doi: 10.1016/j.nmd.2018.04.012

PMCID:: PMC9429833

Abstract Article PDF–1.1M

Select item 487077112.

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