keyword
MENU ▼
Read by QxMD icon Read
search

Limb girdle muscular dystrophy

keyword
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#1
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29789544/development-of-muscular-dystrophy-in-a-crispr-engineered-mutant-rabbit-model-with-frame-disrupting-ano5-mutations
#2
Tingting Sui, Li Xu, Yeh Siang Lau, Di Liu, Tingjun Liu, Yandi Gao, Liangxue Lai, Renzhi Han, Zhanjun Li
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family. Two independent lines of mice with complete disruption of ANO5 transcripts did not exhibit overt muscular dystrophy phenotypes; instead, one of these mice was observed to present with some abnormality in sperm motility. In contrast, a third line of ANO5-knockout (KO) mice with residual expression of truncated ANO5 expression was reported to display defective membrane repair and very mild muscle pathology...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29779596/muscular-dystrophies
#3
REVIEW
John C Carter, Daniel W Sheehan, Andre Prochoroff, David J Birnkrant
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29770364/three-new-cases-of-dilated-cardiomyopathy-caused-by-mutations-in-lmna-gene
#4
Larysa N Sivitskaya, Nina G Danilenko, Tatiyana G Vaikhanskaya, Tatsiyana V Kurushka, Oleg G Davydenko
Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.1558T > C), p.T528R (с.1583С > G) and p.R190P (c.569G > C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM forms with limb-girdle muscular dystrophy and Emery-Dreifuss muscular dystrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29759639/uniparental-disomy-unveils-a-novel-recessive-mutation-in-pomt2
#5
Brianna N Brun, Tobias Willer, Benjamin W Darbro, Hernan D Gonorazky, Sergey Naumenko, James J Dowling, Kevin P Campbell, Steven A Moore, Katherine D Mathews
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). We report a case of LGMD due to a novel mutation in POMT2 unmasked by uniparental isodisomy. The patient experienced proximal muscle weakness from three years of age with minimal progression. She developed progressive contractures and underwent unilateral Achilles tenotomy. By age 11, she had borderline low left ventricular ejection fraction and mild restrictive lung disease...
April 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29759638/a-new-case-of-limb-girdle-muscular-dystrophy-2g-in-a-greek-patient-founder-effect-and-review-of-the-literature
#6
Roberta Brusa, Francesca Magri, Dimitra Papadimitriou, Alessandra Govoni, Roberto Del Bo, Patrizia Ciscato, Marco Savarese, Claudia Cinnante, Maggie C Walter, Angela Abicht, Stefanie Bulst, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Vincenzo Nigro, Giacomo Pietro Comi
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities...
April 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29720576/efficient-exon-skipping-of-sgcg-mutations-mediated-by-phosphorodiamidate-morpholino-oligomers
#7
Eugene J Wyatt, Alexis R Demonbreun, Ellis Y Kim, Megan J Puckelwartz, Andy H Vo, Lisa M Dellefave-Castillo, Quan Q Gao, Mariz Vainzof, Rita C M Pavanello, Mayana Zatz, Elizabeth M McNally
Exon skipping uses chemically modified antisense oligonucleotides to modulate RNA splicing. Therapeutically, exon skipping can bypass mutations and restore reading frame disruption by generating internally truncated, functional proteins to rescue the loss of native gene expression. Limb-girdle muscular dystrophy type 2C is caused by autosomal recessive mutations in the SGCG gene, which encodes the dystrophin-associated protein γ-sarcoglycan. The most common SGCG mutations disrupt the transcript reading frame abrogating γ-sarcoglycan protein expression...
May 3, 2018: JCI Insight
https://www.readbyqxmd.com/read/29693488/elevated-tgf-%C3%AE-2-serum-levels-in-emery-dreifuss-muscular-dystrophy-implications-for-myocyte-and-tenocyte-differentiation-and-fibrogenic-processes
#8
Pia Bernasconi, Nicola Carboni, Giulia Ricci, Gabriele Siciliano, Luisa Politano, Lorenzo Maggi, Tiziana Mongini, Liliana Vercelli, Carmelo Rodolico, Elena Biagini, Giuseppe Boriani, Lucia Ruggiero, Lucio Santoro, Elisa Schena, Sabino Prencipe, Camilla Evangelisti, Elena Pegoraro, Lucia Morandi, Marta Columbaro, Chiara Lanzuolo, Patrizia Sabatelli, Paola Cavalcante, Cristina Cappelletti, Gisèle Bonne, Antoine Muchir, Giovanna Lattanzi
Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF β2) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients...
April 25, 2018: Nucleus
https://www.readbyqxmd.com/read/29688081/perceptions-of-the-transition-from-receiving-the-diagnosis-recessive-limb-girdle-muscular-dystrophy-to-becoming-in-need-of-human-support-and-using-a-wheelchair-an-interview-study
#9
Anna Carin Aho, Sally Hultsjö, Katarina Hjelm
PURPOSE: To describe perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support to manage daily life and using a wheelchair for ambulation, from the affected young adults' and their parents' perspectives. METHOD: A qualitative and descriptive study design was used. Semi-structured interviews were held with 14 young adults diagnosed with recessive limb-girdle muscular dystrophy and 19 parents...
April 24, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29685414/a-novel-capn3-mutation-in-late-onset-limb-girdle-muscular-dystrophy-with-early-respiratory-insufficiency
#10
Jennifer M Martinez-Thompson, Steven A Moore, Teerin Liewluck
We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17-19 in the calpain-3 encoding gene (CAPN3). Pulmonary function tests revealed neuromuscular respiratory weakness. Biceps femoris biopsy showed chronic myopathic changes, numerous lobulated fibers, and reduced calpain-3 immunoreactivity...
April 20, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29671051/update-on-muscle-disease
#11
J Witherick, S Brady
In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions...
April 18, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29669293/three-dimensional-human-ipsc-derived-artificial-skeletal-muscles-model-muscular-dystrophies-and-enable-multilineage-tissue-engineering
#12
Sara Martina Maffioletti, Shilpita Sarcar, Alexander B H Henderson, Ingra Mannhardt, Luca Pinton, Louise Anne Moyle, Heather Steele-Stallard, Ornella Cappellari, Kim E Wells, Giulia Ferrari, Jamie S Mitchell, Giulia E Tyzack, Vassilios N Kotiadis, Moustafa Khedr, Martina Ragazzi, Weixin Wang, Michael R Duchen, Rickie Patani, Peter S Zammit, Dominic J Wells, Thomas Eschenhagen, Francesco Saverio Tedesco
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced pluripotent stem cells (iPSCs) from patients with Duchenne, limb-girdle, and congenital muscular dystrophies. 3D skeletal myogenic differentiation of pluripotent cells was induced within hydrogels under tension to provide myofiber alignment. Artificial muscles recapitulated characteristics of human skeletal muscle tissue and could be implanted into immunodeficient mice...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29669172/the-cardiorespiratory-response-and-physiological-determinants-of-the-assisted-6-minute-handbike-cycle-test-in-adult-males-with-muscular-dystrophy
#13
Christopher I Morse, Emma L Bostock, Harriet M Twiss, Laura H Kapp, Paul Orme, Matthew F Jacques
INTRODUCTION: Assisted six-minute cycle test (A6MCT) distance was assessed in adults with muscular dystrophy (MD). METHODS: Forty-eight males, including Duchenne (DMD), limb-girdle (LGMD), fascioscapulohumeral (FSHD), Becker (BMD), and non-MD (CTRL), completed handgrip strength (HGS), lung function (FEV1, FVC), body fat and biceps thickness assessments. During the A6MCT, ventilation (VE), oxygen uptake (VO2 ), carbon dioxide (VCO2 ) and heart rate (HR) were recorded...
April 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29665321/a-novel-ano5-splicing-variant-in-a-lgmd2l-patient-leads-to-production-of-a-truncated-aggregation-prone-ano5-peptide
#14
Jing Xu, Li Xu, Yeh S Lau, Yandi Gao, Steven A Moore, Renzhi Han
Mutations in ANO5 cause several human diseases including gnathodiaphyseal dysplasia 1 (GDD1), limb-girdle muscular dystrophy 2L (LGMD2L), and Miyoshi myopathy 3 (MMD3). Previous work showed that complete genetic disruption of Ano5 in mice did not recapitulate human muscular dystrophy, while residual expression of mutant Ano5 in a gene trapped mouse developed muscular dystrophy with defective membrane repair. This suggests that truncated Ano5 expression may be pathogenic. Here, we screened a panel of commercial anti-Ano5 antibodies using a recombinant adenovirus expressing human Ano5 with FLAG and YFP at the N- and C-terminus, respectively...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29626101/advanced-dilated-cardiomyopathy-in-a-patient-with-hutterite-limb-girdle-muscular-dystrophy-use-of-a-left-ventricular-assist-device
#15
Bailey Miskew Nichols, Anish Nikhanj, Faqi Wang, Darren H Freed, Gavin Y Oudit
No abstract text is available yet for this article.
April 2018: Circulation. Heart Failure
https://www.readbyqxmd.com/read/29625576/skeletal-cardiac-and-respiratory-muscle-function-and-histopathology-in-the-p448lneo-mouse-model-of-fkrp-deficient-muscular-dystrophy
#16
Qing Yu, Melissa Morales, Ning Li, Alexander G Fritz, Ren Ruobing, Anthony Blaeser, Ershia Francois, Qi-Long Lu, Kanneboyina Nagaraju, Christopher F Spurney
BACKGROUND: Fukutin-related protein (FKRP) mutations are the most common cause of dystroglycanopathies known to cause both limb girdle and congenital muscular dystrophy. The P448Lneo- mouse model has a knock-in mutation in the FKRP gene and develops skeletal, respiratory, and cardiac muscle disease. METHODS: We studied the natural history of the P448Lneo- mouse model over 9 months and the effects of twice weekly treadmill running. Forelimb and hindlimb grip strength (Columbus Instruments) and overall activity (Omnitech Electronics) assessed skeletal muscle function...
April 6, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29618840/smad6-overexpression-leads-to-accelerated-myogenic-differentiation-of-lmna-mutated-cells
#17
Alexandre Janin, Delphine Bauer, Francesca Ratti, Camille Valla, Anne Bertrand, Emilie Christin, Emilie Chopin, Nathalie Streichenberger, Gisèle Bonne, Vincent Gache, Tatiana Cohen, Alexandre Méjat
LMNA gene encodes lamins A and C, two major components of the nuclear lamina, a network of intermediate filaments underlying the inner nuclear membrane. Most of LMNA mutations are associated with cardiac and/or skeletal muscles defects. Muscle laminopathies include Emery-Dreifuss Muscular Dystrophy, Limb-Girdle Muscular Dystrophy 1B, LMNA-related Congenital Muscular Dystrophy and Dilated Cardiomyopathy with conduction defects. To identify potential alterations in signaling pathways regulating muscle differentiation in LMNA-mutated myoblasts, we used a previously described model of conditionally immortalized murine myoblasts: H-2K cell lines...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29571322/long-term-treatment-of-tamoxifen-and-raloxifene-alleviates-dystrophic-phenotype-and-enhances-muscle-functions-of-fkrp-dystroglycanopathy
#18
Bo Wu, Sapana N Shah, Peijuan Lu, Lauren E Bollinger, Anthony Blaeser, Susan Sparks, Amy D Harper, Qi L Lu
The third most common form of limb-girdle muscular dystrophies is caused by mutations of the Fukutin-related protein (FKRP) gene, with no effective therapy available. Selective estrogen receptor modulators, tamoxifen and raloxifene, have been widely used for human conditions for their anti-inflammatory, antifibrosis, prevention of bone loss, and muscle building effects (essential features for muscular dystrophy therapies). We evaluated therapeutic values of tamoxifen and raloxifene in FKRPP448L mutant mouse with severe dystrophic phenotype...
April 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29545480/ion-channel-dysfunctions-in-dilated-cardiomyopathy-in-limb-girdle-muscular-dystrophy
#19
Ibrahim El-Battrawy, Zhihan Zhao, Huan Lan, Xin Li, Gökhan Yücel, Siegfried Lang, Katherine Sattler, Jan-Dierk Schünemann, Wolfram-Hubertus Zimmermann, Lukas Cyganek, Jochen Utikal, Thomas Wieland, Karen Bieback, Ralf Bauer, Antonius Ratte, Regina Pribe-Wolferts, Kleopatra Rapti, Daniel Nowak, Janina Wittig, Dierk Thomas, Patrick Most, Hugo A Katus, Ursula Ravens, Constanze Schmidt, Martin Borggrefe, Xiao-Bo Zhou, Oliver J Müller, Ibrahim Akin
BACKGROUND: Limb-Girdle muscular dystrophies (LGMD) are a heritable group of genetically determined disorders with a primary involvement of the pelvic or shoulder girdle musculature with partially cardiac manifestation, such as dilated cardiomyopathy (DCM) and life-threatening tachyarrhythmia. We report here that human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes from a patient with LGMD2I and DCM associated with recurrent ventricular tachycardia displayed ion channel dysfunction and abnormality of calcium homeostasis...
March 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29534001/the-popeye-domain-containing-genes-and-their-function-as-camp-effector-proteins-in-striated-muscle
#20
REVIEW
Thomas Brand
The Popeye domain containing (POPDC) genes encode transmembrane proteins, which are abundantly expressed in striated muscle cells. Hallmarks of the POPDC proteins are the presence of three transmembrane domains and the Popeye domain, which makes up a large part of the cytoplasmic portion of the protein and functions as a cAMP-binding domain. Interestingly, despite the prediction of structural similarity between the Popeye domain and other cAMP binding domains, at the protein sequence level they strongly differ from each other suggesting an independent evolutionary origin of POPDC proteins...
March 13, 2018: Journal of Cardiovascular Development and Disease
keyword
keyword
62755
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"