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Muscular myopathy

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https://www.readbyqxmd.com/read/29152331/cost-effectiveness-of-massively-parallel-sequencing-for-diagnosis-of-paediatric-muscle-diseases
#1
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G MacArthur, Mark Davis, Nigel G Laing, Nigel F Clarke, Joshua Burns, Sandra T Cooper, Kathryn N North, Sarah A Sandaradura, Gina L O'Grady
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of rare diseases; however, evidence for cost-effectiveness is lacking. Patients presenting with suspected congenital muscular dystrophy or nemaline myopathy were ascertained over a 15-year period. Patients were investigated using traditional diagnostic approaches...
2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29149920/gastrointestinal-and-hepatic-disease-in-the-inflammatory-myopathies
#2
REVIEW
Chiranjeevi Gadiparthi, Amneet Hans, Kyle Potts, Mohammad K Ismail
Although muscle weakness is the pathognomonic feature of idiopathic inflammatory myopathies, systemic organ involvement is not uncommon. The gastrointestinal and hepatic manifestations are well known. Oropharyngeal dysphagia is the most common gastrointestinal symptom and can be severe. Gastric and small intestinal motility disorders, including chronic intestinal pseudo-obstruction, celiac disease, and inflammatory bowel disease have been described. Comprehensive cancer screening is warranted soon after the diagnosis of inflammatory myopathies due to high risk of occult malignancies...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29138090/novel-de-novo-dysferlin-gene-mutations-in-a-patient-with-miyoshi-myopathy
#3
Yi-Ying Hu, Ya-Jun Lian, Hong-Liang Xu, Ya-Ke Zheng, Chen-Fei Li, Ji-Wei Zhang, Shu-Ping Yan
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents. Recently, we encountered novel, de novo mutations in the DYSF gene in a patient with MM. DYSF gene analysis was performed by targeted next-generation sequencing, and we found that the patient had compound heterozygous mutations, including a de novo mutation (c...
November 11, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#4
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29112784/clinical-and-genetic-features-of-patients-with-facial-sparing-facioscapulohumeral-muscular-dystrophy
#5
J-J He, X-D Lin, F Lin, G-R Xu, L-Q Xu, W Hu, D-N Wang, H-X Lin, M-T Lin, N Wang, Z-Q Wang
BACKGROUND AND PURPOSE: Facial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as those without apparent facial muscle weakness on neurologic examination. The clinical profiles and genetic features of SHD are limited. METHODS: A cohort of 21 Chinese patients with SHD were confirmed by PFGE-based molecular genetic analysis. The clinical assessments and methylation analysis were noted...
November 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29089059/effective-induction-therapy-for-anti-srp-associated-myositis-in-childhood-a-small-case-series-and-review-of-the-literature
#6
E L Binns, E Moraitis, S Maillard, S Tansley, N McHugh, T S Jacques, L R Wedderburn, C Pilkington, S A Yasin, K Nistala
BACKGROUND: Anti-Signal Recognition Particle associated myopathy is a clinically and histopathologically distinct subgroup of Juvenile Idiopathic Inflammatory Myositis, which is under-recognised in children and fails to respond to conventional first line therapies. We present three cases where remission was successfully induced using combination therapy with intensive rehabilitation. CASE PRESENTATIONS: Three new patients are reported. All 3 cases presented with profound, rapid-onset, proximal myopathy and markedly raised CK, but no rash...
October 31, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29073160/a-novel-flnc-frameshift-and-an-obscn-variant-in-a-family-with-distal-muscular-dystrophy
#7
Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A Caldwell, Rachel A Policke, Esraa Aldkheil, Christopher E Berndsen, Nathan T Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation (c.5160delC) that was identified in patients and in asymptomatic carriers of three Bulgarian families with distal muscular dystrophy, indicating a low penetrance of the FLNC frameshift mutations. Given these similarities, we believe that the two FLNC mutations alone can be causative of distal myopathy without full penetrance...
2017: PloS One
https://www.readbyqxmd.com/read/29068540/the-molecular-cross-talk-of-the-dystrophin-glycoprotein-complex
#8
REVIEW
Marta Gawor, Tomasz J Prószyński
The proper function of skeletal muscles relies on their ability to process signals derived from motor neurons, transmit stimuli along the muscle fibers, contract, and regenerate efficiently after injury. The dystrophin-glycoprotein complex (DGC; also called the dystrophin-associated protein complex) plays a central role in all of these processes. It acts as a transmembrane platform that anchors the extracellular matrix (ECM) to the intracellular cytoskeleton and makes muscle fibers more resistant to injury...
October 25, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29067661/designing-effective-antisense-oligonucleotides-for-exon-skipping
#9
Takenori Shimo, Rika Maruyama, Toshifumi Yokota
During the past 10 years, antisense oligonucleotide-mediated exon skipping and splice modulation have proven to be powerful tools for correction of mRNA splicing in genetic diseases. In 2016, the US Food and Drug Administration (FDA)-approved Exondys 51 (eteplirsen) and Spinraza (nusinersen), the first exon skipping and exon inclusion drugs, to treat patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), respectively. The exon skipping of DMD mRNA aims to restore the disrupted reading frame using antisense oligonucleotides (AONs), allowing the production of truncated but partly functional dystrophin proteins, and slow down the progression of the disease...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29043378/-neurogenic-myopathies-and-imaging-of-muscle-denervation
#10
REVIEW
M Wolf, C Wolf, M-A Weber
CLINICAL ISSUE: Neurogenic myopathies are primary diseases of the nervous system, which secondarily result in denervation of the target musculature. The spectrum of potential causes is manifold ranging from acute traumatic injuries and chronic compression to neurodegenerative, inflammatory, metabolic and neoplastic processes. STANDARD DIAGNOSTIC METHODS: The medical history, clinical neurological examination, and electrophysiological tests including electromyography and nerve conduction studies are crucial in diagnosing neuropathic myopathies...
October 17, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28994502/pro-protein-subtilisin-kexin-9-pcsk9-inhibition-in-practice-lipid-clinic-experience-in-2-contrasting-uk-centres
#11
Monika Kohli, Kinjal Patel, Zofia MacMahon, Radha Ramachandran, Martin A Crook, Timothy M Reynolds, Anthony S Wierzbicki
BACKGROUND: Prescribing criteria have been suggested for proprotein convertase subtilisin kexin-9 (PCSK-9) inhibitors but few studies exist of their real-world effectiveness. METHODS: This study audited PCSK-9 inhibitor therapy in 105 consecutive patients from two hospital centres-a university hospital (UH; n = 70) and a district general hospital (DGH; n = 35). Baseline characteristics including cardiovascular disease risk factors, NICE qualification criteria, efficacy and side effects were assessed...
October 10, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28984114/a-novel-de-novo-col6a1-mutation-emphasizes-the-role-of-intron-14-donor-splice-site-defects-as-a-cause-of-moderate-progressive-form-of-colvi-myopathy-a-case-report-and-review-of-the-genotype-phenotype-correlation
#12
Agnieszka A Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M Kochański, Rafał Płoski
Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myopathy, an intermediate form and Ullrich congenital muscular dystrophy, which is the most severe. Here we report a novel de novo c.1056+3A>C substitution in intron 14 of the COL6A1 gene encoding alpha-chains of collagen VI in a 13-year-old girl suffering from collagen VI (ColVI) myopathy...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28978871/co-administration-of-myostatin-targeting-sirna-and-actriib-fc-fusion-protein-increases-masseter-muscle-mass-and-fiber-size
#13
Od Bayarsaikhan, Nobuhiko Kawai, Hiroyo Mori, Nao Kinouchi, Takeshi Nikawa, Eiji Tanaka
Myostatin, a member of the TGF-β superfamily, is a negative regulator of skeletal muscle cell growth and differentiation, and binds with high affinity to the activin type IIB receptor (ActRIIB). The soluble ligand-binding domain of ActRIIB fused to the Fc domain of IgG (ActRIIB-Fc) potently binds and inhibits TGF-β family members in muscle, leading to rapid and marked muscle growth. The present study was designed to assess the effectiveness of the co-delivery of myostatin-targeting siRNA (Mstn-siRNA) and ActRIIB-Fc into skeletal muscle as a potential treatment of atrophic myopathies...
2017: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/28977530/nuclear-poly-a-binding-protein-1-pabpn1-and-matrin3-interact-in-muscle-cells-and-regulate-rna-processing
#14
Ayan Banerjee, Katherine E Vest, Grace K Pavlath, Anita H Corbett
The polyadenylate binding protein 1 (PABPN1) is a ubiquitously expressed RNA binding protein vital for multiple steps in RNA metabolism. Although PABPN1 plays a critical role in the regulation of RNA processing, mutation of the gene encoding this ubiquitously expressed RNA binding protein causes a specific form of muscular dystrophy termed oculopharyngeal muscular dystrophy (OPMD). Despite the tissue-specific pathology that occurs in this disease, only recently have studies of PABPN1 begun to explore the role of this protein in skeletal muscle...
October 13, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28966227/childhood-onset-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-anti-hmgcr-necrotizing-myopathy-needs-to-be-distinguished-from-muscular-dystrophy-a-case-study
#15
Yuka Hama, Madoka Mori-Yoshimura, Hirofumi Komaki, Shigeaki Suzuki, Hitoshi Kohsaka, Ichizo Nishino, Yuji Takahashi
A 24-year-old woman visited our hospital with a complaint of walking disability. She had no family history of consanguineous marriage, and her developmental history was unremarkable, with good physical performance just before the onset. At the age of 13, she developed difficulty in walking and visited a pediatrician. Her serum CK level was 10,000 IU/l and she was diagnosed with muscular dystrophy by muscle biopsy. At the age of 16, she became wheelchair dependent and was admitted to our hospital. Physical examination revealed diffuse muscle atrophy and proximal weakness, with no calf hypertrophy or selectivity of muscle involvement...
October 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28952230/how-can-we-effectively-address-the-paraneoplastic-dermatomyositis-diagnosis-risk-factors-and-treatment-options
#16
Ioannis Zerdes, Maria Tolia, Michail Nikolaou, Nikolaos Tsoukalas, Louloudenia Velentza, Jiannis Hajiioannou, Michail Mitsis, George Kyrgias
PURPOSE: Dermatomyositis (DM) represents an auto-immune inflammatory myopathy. In this review, we analyzed the incidence of DM as a clinical manifestation highlighting the peculiar clinical and treatment characteristics of this disease when occurring in the context of different malignancies. METHODS: A systematic literature review was performed based on database search in PubMed/Medline and included English articles until December 2016. RESULTS: In up to 20% of cases DM appears as a paraneoplastic syndrome associated with multiple malignancies such as ovarian, breast, prostate, lung, nasopharyngeal and colorectal cancer, and non-Hodgkin lymphomas...
July 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28940338/inpp5k-variant-causes-autosomal-recessive-congenital-cataract-in-a-pakistani-family
#17
S Yousaf, S A Sheikh, S Riazuddin, A M Waryah, Z M Ahmed
Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with three affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c.149T>C; p.(Ile50Thr)] in INPP5K. Inositol polyphosphate-5-phosphatase K, encoded by INPP5K, is involved in dephosphorylation of phosphatidylinositol (PtdIns) 4,5-bisphosphate, and PtdIns 3,4,5-trisphosphate. Recently, pathogenic variants in INPP5K have been reported in families with congenital muscular dystrophies, intellectual disability, and cataract...
September 22, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28918041/gapmer-antisense-oligonucleotides-suppress-the-mutant-allele-of-col6a3-and-restore-functional-protein-in-ullrich-muscular-dystrophy
#18
Elena Marrosu, Pierpaolo Ala, Francesco Muntoni, Haiyan Zhou
Dominant-negative mutations in the genes that encode the three major α chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients. Gapmer antisense oligonucleotides (AONs) are usually used for gene silencing by stimulating RNA cleavage through the recruitment of an endogenous endonuclease known as RNase H to cleave the RNA strand of a DNA-RNA duplex. In this study, we exploited the application of the allele-specific silencing approach by gapmer AON as a potential therapy for Collagen-VI-related congenital muscular dystrophy (COL6-CMD)...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916757/muscle-pathology-from-stochastic-low-level-dux4-expression-in-an-fshd-mouse-model
#19
Darko Bosnakovski, Sunny S K Chan, Olivia O Recht, Lynn M Hartweck, Collin J Gustafson, Laura L Athman, Dawn A Lowe, Michael Kyba
Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is very low, and protein has not been detected directly in patient biopsies. Efforts to model DUX4 myopathy in mice have foundered either in being too severe, or in lacking muscle phenotypes. Here we show that the endogenous facioscapulohumeral muscular dystrophy-specific DUX4 polyadenylation signal is surprisingly inefficient, and use this finding to develop an facioscapulohumeral muscular dystrophy mouse model with muscle-specific doxycycline-regulated DUX4 expression...
September 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#20
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
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