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Select item 36468211.

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, Corrado Angelini, Vincenzo Nigro

PLoS One. 2013; 8(5): e63536. Published online 2013 May 7. doi: 10.1371/journal.pone.0063536

PMCID:: PMC3646821

Abstract Article PDF–736K

Select item 40216272.

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

VINCENZO NIGRO, MARCO SAVARESE

Acta Myol. 2014 May; 33(1): 1–12.

PMCID:: PMC4021627

Abstract Article PDF–286K

Select item 67151753.

The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection

Sara Rodríguez-Mora, Flore De Wit, Javier García-Perez, Mercedes Bermejo, María Rosa López-Huertas, Elena Mateos, Pilar Martí, Susana Rocha, Lorena Vigón, Frauke Christ, Zeger Debyser, Juan Jesús Vílchez, Mayte Coiras, José Alcamí

PLoS Pathog. 2019 Aug; 15(8): e1007958. Published online 2019 Aug 29. doi: 10.1371/journal.ppat.1007958

PMCID:: PMC6715175

Abstract Article PDF–1.9M

Select item 91362914.

Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection

Francisco Diez-Fuertes, María Rosa López-Huertas, Javier García-Pérez, Esther Calonge, Mercedes Bermejo, Elena Mateos, Pilar Martí, Nuria Muelas, Juan Jesús Vílchez, Mayte Coiras, José Alcamí, Sara Rodríguez-Mora

Front Cell Dev Biol. 2022; 10: 839813. Published online 2022 May 13. doi: 10.3389/fcell.2022.839813

PMCID:: PMC9136291

Abstract Article PDF–3.2M

Select item 65159425.

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

Anna Vihola, Johanna Palmio, Olof Danielsson, Sini Penttilä, Daniel Louiselle, Sara Pittman, Conrad Weihl, Bjarne Udd

Neurol Genet. 2019 Jun; 5(3): e337. Published online 2019 May 2. doi: 10.1212/NXG.0000000000000337

PMCID:: PMC6515942

Abstract Article PDF–766K

Select item 36342016.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Maria J. Melià, Akatsuki Kubota, Saida Ortolano, Juan J. Vílchez, Josep Gámez, Kurenai Tanji, Eduardo Bonilla, Lluís Palenzuela, Israel Fernández-Cadenas, Anna Přistoupilová, Elena García-Arumí, Antoni L. Andreu, Carmen Navarro, Michio Hirano, Ramon Martí

Brain. 2013 May; 136(5): 1508–1517. Published online 2013 Mar 29. doi: 10.1093/brain/awt074

PMCID:: PMC3634201

Abstract Article PDF–783K

Select item 31702137.

Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I

Xiomara Q Rosales, Sean J Moser, Tam Tran, Beth McCarthy, Nicholas Dunn, Philip Habib, Orlando P Simonetti, Jerry R Mendell, Subha V Raman

J Cardiovasc Magn Reson. 2011; 13(1): 39. Published online 2011 Aug 4. doi: 10.1186/1532-429X-13-39

PMCID:: PMC3170213

Abstract Article PDF–303K

Select item 290838.

Analysis of human sarcospan as a candidate gene for CFEOM1

Kristine F O'Brien, Elizabeth C Engle, Louis M Kunkel

BMC Genet. 2001; 2: 3. Published online 2001 Feb 6. doi: 10.1186/1471-2156-2-3

PMCID:: PMC29083

Abstract Article PDF–764K

Select item 1691719.

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

Heather M MacLeod, Mary R Culley, Jill M Huber, Elizabeth M McNally

BMC Med Genet. 2003; 4: 4. Published online 2003 Jul 10. doi: 10.1186/1471-2350-4-4

PMCID:: PMC169171

Abstract Article PDF–803K

Select item 38494910.

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Annachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Meriem Tazir, Nadia Kassouri, Pierre Szepetowski, Tarik Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Djamel Grid, Nicolas Lévy

Am J Hum Genet. 2002 Mar; 70(3): 726–736. Published online 2002 Jan 17. doi: 10.1086/339274

Correction in:: Am J Hum Genet. 2002 Apr; 70(4): 1075.

PMCID:: PMC384949

Abstract Article PDF–687K

Select item 137776511.

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

M C Speer, J M Vance, J M Grubber, F Lennon Graham, J M Stajich, K D Viles, A Rogala, R McMichael, J Chutkow, C Goldsmith, R W Tim, M A Pericak-Vance

Am J Hum Genet. 1999 Feb; 64(2): 556–562. doi: 10.1086/302252

PMCID:: PMC1377765

Summary PDF–311K

Select item 159254712.

Muscular atrophy of caveolin-3–deficient mice is rescued by myostatin inhibition

Yutaka Ohsawa, Hiroki Hagiwara, Masashi Nakatani, Akihiro Yasue, Keiji Moriyama, Tatsufumi Murakami, Kunihiro Tsuchida, Sumihare Noji, Yoshihide Sunada

J Clin Invest. 2006 Nov 1; 116(11): 2924–2934. Published online 2006 Oct 12. doi: 10.1172/JCI28520

PMCID:: PMC1592547

Abstract Article PDF–1.2M

Select item 246739113.

Clinical Studies in Familial VCP Myopathy Associated With Paget Disease of Bone and Frontotemporal Dementia

Virginia. E. Kimonis, Sarju G. Mehta, Erin C. Fulchiero, Dana Thomasova, Marzia Pasquali, Kym Boycott, Edward G. Neilan, Alex Kartashov, Mark S. Forman, Stuart Tucker, Katerina Kimonis, Steven Mumm, Michael P. Whyte, Charles D. Smith, Giles D. J. Watts

Am J Med Genet A. Author manuscript; available in PMC 2008 Jul 15.

Published in final edited form as: Am J Med Genet A. 2008 Mar 15; 146A(6): 745–757. doi: 10.1002/ajmg.a.31862

PMCID:: PMC2467391

Abstract Article PDF–2.0M

Select item 267188614.

Geriatric Neurogenetics: Oxymoron or Reality?

Thomas D Bird, Hillary P Lipe, Ellen J Steinbart

Arch Neurol. Author manuscript; available in PMC 2009 Apr 22.

Published in final edited form as: Arch Neurol. 2008 Apr; 65(4): 537–539. doi: 10.1001/archneur.65.4.537

PMCID:: PMC2671886

Abstract Article PDF–27K

Select item 280860715.

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

Jong-Seo Hong, Chang-Seok Ki, Jong-Won Kim, Yeon-Lim Suh, June Soo Kim, Kyung Kee Baek, Byoung Joon Kim, Kyoung Ju Ahn, Duk-Kyung Kim

J Korean Med Sci. 2005 Apr; 20(2): 283–290. Published online 2005 Apr 30. doi: 10.3346/jkms.2005.20.2.283

PMCID:: PMC2808607

Abstract Article PDF–271K

Select item 285399616.

LMNA Mutations, Skeletal Muscle Lipid Metabolism, and Insulin Resistance

Michael Boschmann, Stefan Engeli, Cedric Moro, Angelika Luedtke, Frauke Adams, Kerstin Gorzelniak, Gabriele Rahn, Anja Mähler, Kerstin Dobberstein, Antje Krüger, Saskia Schmidt, Simone Spuler, Friedrich C. Luft, Steven R. Smith, Hartmut H.-J. Schmidt, Jens Jordan

J Clin Endocrinol Metab. 2010 Apr; 95(4): 1634–1643. Published online 2010 Feb 3. doi: 10.1210/jc.2009-1293

Correction in:: J Clin Endocrinol Metab. May 1, 2010; 95(5): 2521.

PMCID:: PMC2853996

Abstract Article

Select item 696125717.

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali

Orphanet J Rare Dis. 2020; 15: 14. Published online 2020 Jan 14. doi: 10.1186/s13023-020-1296-x

PMCID:: PMC6961257

Abstract Article PDF–977K

Select item 960213218.

Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review

Pannathat Soontrapa, Teerin Liewluck

Genes (Basel) 2022 Oct; 13(10): 1736. Published online 2022 Sep 27. doi: 10.3390/genes13101736

PMCID:: PMC9602132

Abstract Article PDF–1.7M

Select item 373078519.

Neuronal-Specific Overexpression of a Mutant Valosin-Containing Protein Associated with IBMPFD Promotes Aberrant Ubiquitin and TDP-43 Accumulation and Cognitive Dysfunction in Transgenic Mice

Carlos J. Rodriguez-Ortiz, Hitomi Hoshino, David Cheng, Liqun Liu-Yescevitz, Mathew Blurton-Jones, Benjamin Wolozin, Frank M. LaFerla, Masashi Kitazawa

Am J Pathol. 2013 Aug; 183(2): 504–515. doi: 10.1016/j.ajpath.2013.04.014

PMCID:: PMC3730785

Abstract Article PDF–2.0M

Select item 778342420.

LGMD. Identification, description and classification

Corrado Angelini

Acta Myol. 2020 Dec; 39(4): 207–217. Published online 2020 Dec 1. doi: 10.36185/2532-1900-024

PMCID:: PMC7783424

Abstract Article PDF–272K

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PMC Articles for MedGen (Select 333983) (24)
PMC
Homo sapiens ataxin 3 (ATXN3), transcript variant w, non-coding RNA
Homo sapiens ataxin 3 (ATXN3), transcript variant w, non-coding RNA
gi|1701961877|ref|NR_028465.2|

Nucleotide
TSA: Moniezia expansa Unigene64779_136 mRNA sequence
TSA: Moniezia expansa Unigene64779_136 mRNA sequence
gi|333513385|gnl|gpid:64663|Unigene _136|gb|JL287528.1|

Nucleotide

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