Literature DB >> 25037088

The limb-girdle muscular dystrophies.

Matthew P Wicklund1, John T Kissel2.   

Abstract

A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Anoctamin 5; Calpain 3; Dysferlin; Fukutin-related protein; Lamin A/C; Limb-girdle muscular dystrophy; Sarcoglycan

Mesh:

Substances:

Year:  2014        PMID: 25037088     DOI: 10.1016/j.ncl.2014.04.005

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  20 in total

1.  [Molecular pathogenesis of Duchenne muscular dystrophy-related fibrosis].

Authors:  K Ohlendieck; D Swandulla
Journal:  Pathologe       Date:  2017-02       Impact factor: 1.011

2.  Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy.

Authors:  Alexandra von Guionneau; Charlotte Burford; Sophia Stone
Journal:  Obstet Med       Date:  2018-12-11

3.  Chemotherapy dosing and toxicity in a patient with muscular dystrophy.

Authors:  Chris Lomma; David Ransom
Journal:  Cancer Rep (Hoboken)       Date:  2018-06-04

4.  Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.

Authors:  Mainak Bardhan; Ram Murthy Anjanappa; Kiran Polavarapu; Veeramani Preethish-Kumar; Seena Vengalil; Saraswati Nashi; Shamita Sanga; Hansashree Padmanabh; Ravi Kiran Valasani; Vikas Nishadham; Muddasu Keerthipriya; Thenral S Geetha; Vedam Ramprasad; Gautham Arunachal; Priya Treesa Thomas; Moulinath Acharya; Atchayaram Nalini
Journal:  Neurogenetics       Date:  2022-04-13       Impact factor: 3.017

5.  Targeted mRNA Decay by RNA Binding Protein AUF1 Regulates Adult Muscle Stem Cell Fate, Promoting Skeletal Muscle Integrity.

Authors:  Devon M Chenette; Adam B Cadwallader; Tiffany L Antwine; Lauren C Larkin; Jinhua Wang; Bradley B Olwin; Robert J Schneider
Journal:  Cell Rep       Date:  2016-07-21       Impact factor: 9.423

Review 6.  The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?

Authors:  Mary Lynn Chu; Ellen Moran
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

7.  Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice.

Authors:  Anil K Agarwal; Katie Tunison; Matthew A Mitsche; Jeffrey G McDonald; Abhimanyu Garg
Journal:  J Lipid Res       Date:  2019-10-25       Impact factor: 5.922

Review 8.  Aberrant NLRP3 Inflammasome Activation Ignites the Fire of Inflammation in Neuromuscular Diseases.

Authors:  Christine Péladeau; Jagdeep K Sandhu
Journal:  Int J Mol Sci       Date:  2021-06-04       Impact factor: 5.923

9.  POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

Authors:  Roland F R Schindler; Chiara Scotton; Jianguo Zhang; Chiara Passarelli; Beatriz Ortiz-Bonnin; Subreena Simrick; Thorsten Schwerte; Kar-Lai Poon; Mingyan Fang; Susanne Rinné; Alexander Froese; Viacheslav O Nikolaev; Christiane Grunert; Thomas Müller; Giorgio Tasca; Padmini Sarathchandra; Fabrizio Drago; Bruno Dallapiccola; Claudio Rapezzi; Eloisa Arbustini; Francesca Romana Di Raimo; Marcella Neri; Rita Selvatici; Francesca Gualandi; Fabiana Fattori; Antonello Pietrangelo; Wenyan Li; Hui Jiang; Xun Xu; Enrico Bertini; Niels Decher; Jun Wang; Thomas Brand; Alessandra Ferlini
Journal:  J Clin Invest       Date:  2015-12-07       Impact factor: 14.808

Review 10.  A Journey with LGMD: From Protein Abnormalities to Patient Impact.

Authors:  Dimitra G Georganopoulou; Vasilis G Moisiadis; Firhan A Malik; Ali Mohajer; Tanya M Dashevsky; Shirley T Wuu; Chih-Kao Hu
Journal:  Protein J       Date:  2021-06-10       Impact factor: 2.371

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