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Limb Girdle Muscular Dystrophy

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Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Eugénie Dionnet, Aurélia Defour, Nathalie Da Silva, Alexandra Salvi, Nicolas Lévy, Martin Krahn, Marc Bartoli, Francesca Puppo, Svetlana Gorokhova,

ABSTRACT Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for the majority of exons of CAPN3 , the gene responsible for Limb Girdle Muscular ... Read more >>

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A muscle-specific calpain, CAPN3, forms a homotrimer.

Shoji Hata, Naoko Doi, Fumiko Shinkai-Ouchi, Yasuko Ono,

Calpain-3 (CAPN3), a 94-kDa member of the calpain protease family, is abundant in skeletal muscle. Mutations in the CAPN3 gene cause limb girdle muscular dystrophy type 2A, indicating that CAPN3 plays important roles in muscle physiology. CAPN3 has several unique features. A crystallographic study revealed that its C-terminal penta-EF-hand domains ... Read more >>

Biochim Biophys Acta Proteins Proteom (Biochimica et biophysica acta. Proteins and proteomics)
[2020, :140411]

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Limb Girdle Muscular Dystrophy and Therapy: Current progress in Cell and Gene-based approaches.

Forough Taheri, Eskandar Taghizadeh, Mohammad Javad Rafiei Pour, Daryoush Rostami, Pedram Ghorbani Renani, Azam Rastgar-Moghadam, Seyed Mohammad Gheibi Hayat,

The limb-girdle muscular dystrophies (LGMD) are genetically heterogeneous disorders, responsible for muscle wasting and severe form of dystrophies. Despite the critical developments in the insight and information of pathomechanisms of limb-girdle muscular dystrophy, any definitive treatments do not exist, and current strategies are only based on the improvement of the ... Read more >>

Curr Gene Ther (Current gene therapy)
[2020, :]

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Timed immersion expiration measures in patients with muscular dystrophies.

Mariana Callil Voos, Priscila Santos Albuquerque Goya, Bruna Leal de Freitas, Aline Moço Teixeira Pires, Francis Meire Favero, Fátima Aparecida Caromano,

Introduction:Muscular dystrophies (MD) cause muscle weakness, affecting motor and respiratory functions. Aquatic activities maintain strength and ventilatory function and may require immersion expiration control. Objectives:(1) To describe the evolution of timed immersion expiration in patients with MD in one-year follow-up. (2) to describe motor and respiratory outcomes in one-year follow-up. ... Read more >>

Arch Physiother (Archives of physiotherapy)
[2020, 10:4]

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HNK-1 Sulfotransferase modulates α-dystroglycan glycosylation by 3-O-sulfation of glucuronic acid on matriglycan.

M Osman Sheikh, David Venzke, Mary E Anderson, Takako Yoshida-Moriguchi, John N Glushka, Alison V Nairn, Melina Galizzi, Kelley W Moremen, Kevin P Campbell, Lance Wells,

Mutations in multiple genes required for proper O-mannosylation of α-dystroglycan are causal for congenital/limb-girdle muscular dystrophies and abnormal brain development in mammals. Previously, we and others further elucidated the functional O-mannose glycan structure that is terminated by matriglycan, [(-GlcA-β3-Xyl-α3-)n]. This repeating disaccharide serves as a receptor for proteins in the ... Read more >>

Glycobiology (Glycobiology)
[2020, :]

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Functions of Vertebrate Ferlins.

Anna V Bulankina, Sven Thoms,

Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6 and the long noncoding RNA Fer1L4. Mutations in DYSF (dysferlin) can cause a range of muscle diseases ... Read more >>

Cells (Cells)
[2020, 9(3):]

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Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function.

Dinesh S Shah, Raid B Nisr, Clare Stretton, Gabriela Krasteva-Christ, Harinder S Hundal,

BACKGROUND:Caveolin-3 (Cav3) is the principal structural component of caveolae in skeletal muscle. Dominant pathogenic mutations in the Cav3 gene, such as the Limb Girdle Muscular Dystrophy-1C (LGMD1C) P104L mutation, result in substantial loss of Cav3 and myopathic changes characterized by muscle weakness and wasting. We hypothesize such myopathy may also ... Read more >>

J Cachexia Sarcopenia Muscle (Journal of cachexia, sarcopenia and muscle)
[2020, :]

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Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain

Melanie Pullen, Conrad Weihl, Heather True,

ABSTRACT The misfolding and aggregation of proteins is often implicated in the development and progression of degenerative diseases. Heat shock proteins (HSPs), such as the ubiquitously expressed Type II Hsp40 molecular chaperone, DNAJB6, assist in protein folding and disaggregation. Historically, mutations within the DNAJB6 G/F domain have been associated with ... Read more >>

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Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

Iván Landires, Virginia Núñez-Samudio, Julián Fernandez, Cesar Sarria, Víctor Villareal, Fernando Córdoba, Giovanni Apráez-Ippolito, Samuel Martínez, Oscar M Vidal, Jorge I Vélez, Mauricio Arcos-Holzinger, Sergio Landires, Mauricio Arcos-Burgos,

Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the ... Read more >>

Genes (Basel) (Genes)
[2020, 11(2):]

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A hospital based epidemiological study of genetically determined muscle disease in south western Norway.

Sylvia Adele Husebye, Camilla Bratt Rebne, Ann-Elin Stokland, Petter Schandl Sanaker, Laurence A Bindoff,

We determined the prevalence of genetically determined neuromuscular diseases in adult Norwegian patients from Hordaland County. We identified patients using International Classification of Disease codes registered in our hospital database and reviewed patient notes to ensure diagnostic accuracy. To ensure maximal ascertainment, we screened both inpatient and outpatient contacts from ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, :]

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Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.

Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Raquel Cristina Arndt, Nyvia Milicio Coblinski Hrysay, Renata Dal-Pra Ducci, Otto H Jesus Fustes, Ana Töpf, Hanns Lochmüller, Lineu Cesar Werneck, Rosana Herminia Scola,

Congenital myasthenic syndromes (CMS) associated with pathogenic variants in the DOK7 gene (DOK7-CMS) have phenotypic overlap with other neuromuscular disorders associated with limb-girdle muscular weakness (LGMW). Genetic analysis of the most common mutation (c.1124_1127dupTGCC) in DOK7 was performed in 34 patients with "unexplained" LGMW associated with non-specific changes in muscle ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, :]

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The use of ivabradine in a patient with inappropriate sinus tachycardia and cardiomyopathy due to limb girdle muscular dystrophy type 2I.

Rajkumar Rajendram, Fahad AlDhahri, Naveed Mahmood, Mubashar Kharal,

Muscular dystrophies are a heterogeneous group of disorders that commonly involve cardiac and skeletal muscle. Comprehensive guidelines for the management of cardiac failure and arrhythmias are available. However, the studies from which their recommendations are derived did not include any patients with muscular dystrophy. Some medications (eg, betablockers) may have ... Read more >>

BMJ Case Rep (BMJ case reports)
[2020, 13(1):]

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Modulators of calpain activity: inhibitors and activators as potential drugs.

Levente Endre Dókus, Mo'ath Yousef, Zoltán Bánóczi,

Introduction: Calpains are intracellular Ca2+-dependent cysteine proteases with 15 known members in the enzyme family. They act as regulatory enzymes, their cleavage modifying the function of their substrates. As their substrates have important roles in many physiological processes, adequate function of calpains is mandatory for normal cellular functions. The adverse ... Read more >>

Expert Opin Drug Discov (Expert opinion on drug discovery)
[2020, 15(4):471-486]

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Fatigability in spinal muscular atrophy: validity and reliability of endurance shuttle tests.

Bart Bartels, Janke F. de Groot, Laura E. Habets, Camiel A. Wijngaarde, Wendy Vink, Marloes Stam, Fay-Lynn Asselman, Ruben P. A. van Eijk, W. Ludo van der Pol,

BackgroundTo determine construct validity and test-retest reliability of Endurance Shuttle Tests as outcome measures for fatigability of remaining motor functions in children and adults with Spinal Muscular Atrophy (SMA) across the severity spectrum.ResultsWe assessed the Endurance Shuttle - Nine Hole Peg Test (ESNHPT), − Box and Block Test (ESBBT) and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15:]

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Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery.

Marcello Carotti, Martina Scano, Irene Fancello, Isabelle Richard, Giovanni Risato, Mona Bensalah, Michela Soardi, Dorianna Sandonà,

Sarcoglycanopathies are rare limb girdle muscular dystrophies, still incurable, even though symptomatic treatments may slow down the disease progression. Most of the disease-causing defects are missense mutations leading to a folding defective protein, promptly removed by the cell's quality control, even if possibly functional. Recently, we repurposed small molecules screened ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.

Giorgia Bruno, Gianfranco Puoti, Mariano Oliva, Davide Colavito, Lia Allegorico, Filomena Napolitano, Simone Sampaolo,

Caveolins are essential proteins in caveolae architecture, small plasma membrane invaginations that play a key role in a variety of cellular processes, including vesicular trafficking and signal transduction. Mutations in the gene encoding caveolin-3 (CAV3) cause a broad spectrum of clinical phenotypes, ranging from isolated hyperCKemia to most severe limb ... Read more >>

Clin Neurol Neurosurg (Clinical neurology and neurosurgery)
[2020, 191:105687]

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Moving neuromuscular disorders research forward: from novel models to clinical studies.

Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling,

Summary: This Editorial summarizes the highlights of DMM's Special Issue ‘A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies’. ... Read more >>

Dis Model Mech (Disease models & mechanisms)
[2020, 13(2):]

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Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.

Rachel A Kennedy, Kate Carroll, Jennifer L McGinley, Kade L Paterson,

BACKGROUND:Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and ... Read more >>

J Foot Ankle Res (Journal of Foot and Ankle Research)
[2020, 13(1):10]

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A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy.

Stefan Nicolau, Teerin Liewluck, Jeffrey L Elliott, Andrew G Engel, Margherita Milone,

Mutations in heat shock protein B8 were initially identified in inherited neuropathies and were more recently found to cause a predominantly distal myopathy with myofibrillar pathology and rimmed vacuoles. Rare patients also had proximal weakness. Only very few pathogenic variants have been identified in HSPB8. Disruption of the chaperone activity ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, :]

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Skeletal muscle in health and disease.

Jennifer Morgan, Terence Partridge,

Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (i.e. they are no longer able to divide) and perform muscle contraction. They are formed by fusion of muscle precursor cells, and grow into elongating myofibres by the addition of further precursor cells, called satellite cells, which are also responsible ... Read more >>

Dis Model Mech (Disease models & mechanisms)
[2020, 13(2):]

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A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy.

Ezgi Saylam, Steven A Moore, Akilandeswari Aravindhan, Heather Marton, Peter L Nagy, Murat Gokden, Mary O Cox, Vikki Stefans, Aravindhan Veerapandiyan,

Neurol Genet (Neurology. Genetics)
[2020, 6(1):e388]

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Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.

Haizhu Chen, Guorong Xu, Feng Lin, Ming Jin, Naiqing Cai, Liangliang Qiu, Zhixian Ye, Lili Wang, Minting Lin, Ning Wang,

Limb girdle muscular dystrophy LGMD R7 telethonin-related is a rare autosomal recessive muscle disorder characterized by proximal muscle weakness of pelvic and shoulder girdles. Mutation in TCAP is responsible for LGMD R7, and the disease has a wide geographic distribution in diverse populations, but genotype-phenotype relationships remain unclear. We collected ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, 30(2):137-143]

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Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

Rocio Bengoechea, Andrew Findlay, Ankan Bhadra, Hao Shao, Kevin Stein, Sara Pittman, Jil Daw, Jason Gestwicki, Heather True, Conrad Weihl,

Abstract Dominant mutations in the HSP70 co-chaperone DNAJB6 cause a late onset muscle disease termed limb girdle muscular dystrophy type 1D (LGMD1D), which is characterized by protein aggregation and vacuolar myopathology. Disease mutations reside within the G/F domain of DNAJB6, but the molecular mechanisms underlying dysfunction are not well understood. ... Read more >>

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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,

BACKGROUND:Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high consanguineous marriages like Iran. In the present study, we aimed to investigate the genetic basis of patients ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):14]

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Cross-Talk Between Extracellular Matrix and Skeletal Muscle: Implications for Myopathies.

Khurshid Ahmad, Sibhghatulla Shaikh, Syed Sayeed Ahmad, Eun Ju Lee, Inho Choi,

Skeletal muscle (SM) comprises around 40% of total body weight and is among the most important plastic tissues, as it supports skeletal development, controls body temperature, and manages glucose levels. Extracellular matrix (ECM) maintains the integrity of SM, enables biochemical signaling, provides structural support, and plays a vital role during ... Read more >>

Front Pharmacol (Frontiers in pharmacology)
[2020, 11:142]

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