PMC Articles for MedGen (Select 1385598) - PMC

Select item 40216271.

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

VINCENZO NIGRO, MARCO SAVARESE

Acta Myol. 2014 May; 33(1): 1–12.

PMCID:: PMC4021627

Select item 105794792.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-Langreo, Alfonso Peña-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo López de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzábal, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Andrés Nascimento, Àngels García-Cazorla, Daniel Natera-de Benito

J Med Genet. 2023 Oct; 60(10): 965–973. Published online 2023 May 16. doi: 10.1136/jmg-2022-109132

PMCID:: PMC10579479

Abstract Article PDF–3.1M

Select item 105659773.

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz

Orphanet J Rare Dis. 2023; 18: 315. Published online 2023 Oct 10. doi: 10.1186/s13023-023-02873-5

PMCID:: PMC10565977

Abstract Article PDF–2.1M

Select item 96239784.

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

Ning Wang, Xu Han, Shengpu Hao, Jingzhe Han, Xiaomeng Zhou, Shuyan Sun, Jin Tang, Yanpeng Lu, Hongran Wu, Shaojuan Ma, Xueqin Song, Guang Ji

BMC Neurol. 2022; 22: 398. Published online 2022 Nov 1. doi: 10.1186/s12883-022-02905-w

PMCID:: PMC9623978

Abstract Article PDF–1.2M

Select item 82877975.

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong

Orphanet J Rare Dis. 2021; 16: 319. Published online 2021 Jul 19. doi: 10.1186/s13023-021-01950-x

PMCID:: PMC8287797

Abstract Article PDF–3.2M

Select item 63767036.

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong, Yun Yuan

Orphanet J Rare Dis. 2019; 14: 43. Published online 2019 Feb 14. doi: 10.1186/s13023-019-1021-9

PMCID:: PMC6376703

Abstract Article PDF–1.2M

Select item 57755987.

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C. Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira

BMC Dermatol. 2018; 18: 1. Published online 2018 Jan 20. doi: 10.1186/s12895-018-0069-x

PMCID:: PMC5775598

Abstract Article PDF–1.4M

Select item 39773398.

Carrier Frequency of the c.525delT Mutation in the SGCG Gene and Estimated Prevalence of Limb Girdle Muscular Dystrophy Type 2C Among the Moroccan Population

Fatiha El Kerch, Ilham Ratbi, Aziza Sbiti, Fatima-Zohra Laarabi, Amina Barkat, Abdelaziz Sefiani

Genet Test Mol Biomarkers. 2014 Apr 1; 18(4): 253–256. doi: 10.1089/gtmb.2013.0326

PMCID:: PMC3977339

Abstract Article PDF–266K

Select item 28610259.

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi, Masafumi Matsuo

BMC Med Genet. 2010; 11: 49. Published online 2010 Mar 30. doi: 10.1186/1471-2350-11-49

PMCID:: PMC2861025

Abstract Article PDF–899K

Select item 272298310.

Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle

Irina Kramerova, Elena Kudryashova, Benjamin Wu, Sean Germain, Krista Vandenborne, Nadine Romain, Ronald G. Haller, M. Anthony Verity, Melissa J. Spencer

Hum Mol Genet. 2009 Sep 1; 18(17): 3194–3205. Published online 2009 May 29. doi: 10.1093/hmg/ddp257

PMCID:: PMC2722983

Abstract Article PDF–671K

Select item 261482411.

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

Jacques S Beckmann, Melissa Spencer

Neuromuscul Disord. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 913–921. Published online 2008 Oct 29. doi: 10.1016/j.nmd.2008.08.005

PMCID:: PMC2614824

Abstract Article PDF–798K

Select item 259251112.

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Montse Olivé, Alexey Shatunov, Laura Gonzalez, Olga Carmona, Dolores Moreno, Lidia Gonzalez Quereda, J.A. Martinez-Matos, Lev G. Goldfarb, Isidro Ferrer

Neuromuscul Disord. Author manuscript; available in PMC 2008 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 929–933. Published online 2008 Oct 22. doi: 10.1016/j.nmd.2008.07.009

PMCID:: PMC2592511

Abstract Article PDF–585K

Select item 173613313.

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

G Piluso, L Politano, S Aurino, M Fanin, E Ricci, V Ventriglia, A Belsito, A Totaro, V Saccone, H Topaloglu, A Nascimbeni, L Fulizio, A Broccolini, N Canki-Klain, L Comi, G Nigro, C Angelini, V Nigro

J Med Genet. 2005 Sep; 42(9): 686–693. doi: 10.1136/jmg.2004.028738

PMCID:: PMC1736133

Summary PDF–101K

Select item 105114514.

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

M Fanin, D J Duggan, M L Mostacciuolo, F Martinello, M P Freda, G Sorarù, C P Trevisan, E P Hoffman, C Angelini

J Med Genet. 1997 Dec; 34(12): 973–977. doi: 10.1136/jmg.34.12.973

PMCID:: PMC1051145

Summary Page Browse PDF–1016K

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