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Nemaline myopathy

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https://www.readbyqxmd.com/read/29731279/a-novel-acta1-mutation-causing-progressive-facioscapuloperoneal-myopathy-in-an-adult
#1
Justin C Kao, Teerin Liewluck, Margherita Milone
We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic late-onset nemaline myopathy (SLONM), which is a treatable acquired muscle disease often associated with monoclonal gammopathy or HIV infection. Both congenital NM and SLONM are characterized by the presence of nemaline rods in muscle. The patient's clinical history of difficulty running since childhood and weakness in other family members favored a congenital NM...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29669168/characterization-of-congenital-myopathies-at-a-korean-neuromuscular-center
#2
Young-Eun Park, Jin-Hong Shin, Hyang-Sook Kim, Chang-Hoon Lee, Dae-Seong Kim
INTRODUCTION: Congenital myopathies are muscle diseases characterized by specific histopathological features, generalized hypotonia from birth, and perinatal complications, although some cases develop during childhood or rarely even in adulthood. We undertook the study to characterize congenital myopathies among patients registered at our institution. METHODS: Clinical, histopathological and genetic features were evaluated in 34 patients recruited for this study...
April 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29515067/-sporadic-late-onset-nemaline-myopathy-with-monoclonal-gammopathy-of-undetermined-significance-mimicking-poems-syndrome
#3
Takashi Kanamori, Shigeru Kusumoto, Kenji Okita, Shinya Hagiwara, Chie Kato, Takahiro Nakashima, Satsuki Murakami, Tomoko Narita, Asahi Ito, Masaki Ri, Takashi Ishida, Hirokazu Komatsu, Noriyuki Matsukawa, Shinsuke Iida
A 40-year-old female presented with a skin rash, hepatosplenomegaly, hypothyroidism, IgG-λ monoclonal gammopathy, slightly elevated serum VEGF levels, and >1-year history of weakness in the posterior cervical muscles. Based on these symptoms and her clinical course, she was suspected of having POEMS syndrome. However, because there was no sign of peripheral neuropathy (PN), the criteria for the diagnosis of POEMS syndrome were not met. Consequently, she continued follow-up and was under close observation as an outpatient...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29498452/ryanodine-receptor-type-3-ryr3-as-a-novel-gene-associated-with-a-myopathy-with-nemaline-bodies
#4
Y Nilipour, S Nafissi, A E Tjust, G Ravenscroft, H Hossein Nejad Nedai, R L Taylor, V Varasteh, F Pedrosa Domellöf, M Zangi, S H Tonekaboni, M Olivé, K Kiiski, L Sagath, M R Davis, N G Laing, H Tajsharghi
BACKGROUND AND PURPOSE: Nemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM, definitive mutations are not identified in the known genes, suggesting that there are other genes involved. This study describes compound heterozygosity for rare variants in ryanodine receptor type 3 (RYR3) gene in one such patient. METHODS AND RESULTS: Clinical examination of the patient at 22 years of age revealed a long narrow face, high arched palate and bilateral facial weakness...
June 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29457652/expanding-the-histopathological-spectrum-of-cfl2-related-myopathies
#5
F Fattori, C Fiorillo, C Rodolico, G Tasca, M Verardo, E Bellacchio, S Pizzi, A Ciolfi, G Fagiolari, A Lupica, P Broda, M Pedemonte, M Moggio, C Bruno, M Tartaglia, E Bertini, A D'Amico
Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2-/- knockout mouse model...
June 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29433794/clinically-variable-nemaline-myopathy-in-a-three-generation-family-caused-by-mutation-of-the-skeletal-muscle-alpha-actin-gene
#6
Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy...
April 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29420541/genetic-compensation-triggered-by-actin-mutation-prevents-the-muscle-damage-caused-by-loss-of-actin-protein
#7
Tamar E Sztal, Emily A McKaige, Caitlin Williams, Avnika A Ruparelia, Robert J Bryson-Richardson
The lack of a mutant phenotype in homozygous mutant individuals' due to compensatory gene expression triggered upstream of protein function has been identified as genetic compensation. Whilst this intriguing process has been recognized in zebrafish, the presence of homozygous loss of function mutations in healthy human individuals suggests that compensation may not be restricted to this model. Loss of skeletal α-actin results in nemaline myopathy and we have previously shown that the pathological symptoms of the disease and reduction in muscle performance are recapitulated in a zebrafish antisense morpholino knockdown model...
February 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29391587/congenital-myopathies-disorders-of-excitation-contraction-coupling-and-muscle-contraction
#8
REVIEW
Heinz Jungbluth, Susan Treves, Francesco Zorzato, Anna Sarkozy, Julien Ochala, Caroline Sewry, Rahul Phadke, Mathias Gautel, Francesco Muntoni
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly progressive course. Pronounced weakness in axial and proximal muscle groups is a common feature, and involvement of extraocular, cardiorespiratory and/or distal muscles can implicate specific genetic defects. Central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM) and nemaline myopathy were among the first congenital myopathies to be reported, and they still represent the main diagnostic categories...
March 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29356967/sporadic-late-onset-nemaline-myopathy-clinical-pathology-and-imaging-findings-in-a-single-center-cohort
#9
Mauro Monforte, Guido Primiano, Gabriella Silvestri, Massimiliano Mirabella, Marco Luigetti, Cristina Cuccagna, Enzo Ricci, Serenella Servidei, Giorgio Tasca
Sporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weakness in late adulthood, and the presence of nemaline bodies on muscle biopsy. In recent years, several therapeutic interventions, including immunomodulating agents and autologous stem cell transplantation, have shown variable degrees of efficacy in different patients, but no consensus has been reached to allow an effective tailoring of treatments in this severe disease. We performed a retrospective evaluation of clinical, pathological, laboratory, muscle MRI, and follow-up data of SLONM patients diagnosed in the period 2010-2015 in our neuromuscular center...
March 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29331079/lmod3-associated-nemaline-myopathy-prenatal-ultrasonographic-pathologic-and-molecular-findings
#10
Michal Berkenstadt, Ben Pode-Shakked, Ortal Barel, Hila Barash, Reuven Achiron, Yinon Gilboa, Dvora Kidron, Annick Raas-Rothschild
To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3-related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy. To establish a molecular diagnosis, whole-exome sequencing was pursued for the affected fetuses. Nemaline myopathy is a common form of congenital myopathy manifesting with nonprogressive generalized muscle weakness, hypotonia, and electron-dense protein inclusions in skeletal myofibers...
January 13, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29328520/dysfunctional-sarcomere-contractility-contributes-to-muscle-weakness-in-acta1-related-nemaline-myopathy-nem3
#11
Barbara Joureau, Josine Marieke de Winter, Stefan Conijn, Sylvia J P Bogaards, Igor Kovacevic, Albert Kalganov, Malin Persson, Johan Lindqvist, Ger J M Stienen, Thomas C Irving, Weikang Ma, Michaela Yuen, Nigel F Clarke, Dilson E Rassier, Edoardo Malfatti, Norma B Romero, Alan H Beggs, Coen A C Ottenheijm
OBJECTIVE: Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. We hypothesized that sarcomeric dysfunction contributes to muscle weakness in NEM3 patients...
February 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29320728/in-vivo-function-of-the-chaperonin-tric-in-%C3%AE-actin-folding-during-sarcomere-assembly
#12
Joachim Berger, Silke Berger, Mei Li, Arie S Jacoby, Anders Arner, Navid Bavi, Alastair G Stewart, Peter D Currie
The TCP-1 ring complex (TRiC) is a multi-subunit group II chaperonin that assists nascent or misfolded proteins to attain their native conformation in an ATP-dependent manner. Functional studies in yeast have suggested that TRiC is an essential and generalized component of the protein-folding machinery of eukaryotic cells. However, TRiC's involvement in specific cellular processes within multicellular organisms is largely unknown because little validation of TRiC function exists in animals. Our in vivo analysis reveals a surprisingly specific role of TRiC in the biogenesis of skeletal muscle α-actin during sarcomere assembly in myofibers...
January 9, 2018: Cell Reports
https://www.readbyqxmd.com/read/29274205/arthrogryposis-and-pterygia-as-lethal-end-manifestations-of-genetically-defined-congenital-myopathies
#13
Atif A Ahmed, Priya Skaria, Nicole P Safina, Isabelle Thiffault, Alex Kats, Eugenio Taboada, Sultan Habeebu, Carol Saunders
Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29246625/clinical-and-genetic-diversity-of-nemaline-myopathy-from-a-single-neuromuscular-center-in-korea
#14
Jong-Mok Lee, Jeong Geun Lim, Jin-Hong Shin, Young-Eun Park, Dae-Seong Kim
Nemaline myopathy (NM), the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to identify the causative mutations of NM and to reveal any specific genotype-phenotype relationship in Korean patients with this disease. We investigated the clinical features and genotypes in 15 pathologically diagnosed NM patients, using whole exome sequencing (WES) combined with targeted sequencing and array-based comparative genomic hybridization. This strategy revealed pathogenic causative mutations in seven patients (46...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29178646/novel-autosomal-dominant-tnnt1-mutation-causing-nemaline-myopathy
#15
Chamindra G Konersman, Fernande Freyermuth, Thomas L Winder, Michael W Lawlor, Clotilde Lagier-Tourenne, Shailendra B Patel
BACKGROUND: Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion mutations in TNNT1 gene have been identified in NEM. This extended family is of historical importance as some members were reported in the 1960s as initial evidence that NEM is a hereditary disorder...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29152331/cost-effectiveness-of-massively-parallel-sequencing-for-diagnosis-of-paediatric-muscle-diseases
#16
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/29070751/-two-cases-of-nemaline-myopathy-presenting-with-hypertrophy-of-distal-limbs-with-prominent-asymmetry
#17
Yukio Mizuno, Madoka Mori-Yoshimura, Yasushi Oya, Atsuko Nishikawa, Ichizo Nishino, Yuji Takahashi
Nemaline myopathy commonly presents with symmetrical proximal weakness. Here we report two cases of nemaline myopathy presenting with distal dominant involvement with prominent asymmetry. Case 1 was a 37-year-old man who recalled frequently falling down and had right calf atrophy since he was 3-years-old. He had right calf muscle atrophy and weakness and steppage gait; his cardiopulmonary function was normal. Case 2 was a 35-year-old man with right calf muscle atrophy and weakness since childhood. He had right dominant distal leg weakness and atrophy together with respiratory failure and started noninvasive positive pressure ventilation...
November 25, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28977494/co-presentation-of-adult-onset-systemic-lupus-erythematosus-and-nemaline-myopathy
#18
Akshay Hindocha, Peter Klimiuk, Mark Roberts, Piyali Pal, Teresinha Evangelista, Hanns Lochmüller, Hector Chinoy
No abstract text is available yet for this article.
November 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28939701/rapid-targeted-genomics-in-critically-ill-newborns
#19
Cleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, Tom J de Koning, Birgit Sikkema-Raddatz, Joeri K van der Velde, Kristin M Abbott, Johanna C Herkert, Katharina Löhner, Patrick Rump, Martine T Meems-Veldhuis, Pieter B T Neerincx, Jan D H Jongbloed, Conny M van Ravenswaaij-Arts, Morris A Swertz, Richard J Sinke, Irene M van Langen, Cisca Wijmenga
BACKGROUND: Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of our prospective study was to assess the speed and yield of rapid targeted genomic diagnostics for clinical application...
October 2017: Pediatrics
https://www.readbyqxmd.com/read/28826497/klhl41-stabilizes-skeletal-muscle-sarcomeres-by-nonproteolytic-ubiquitination
#20
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray. We generated KLHL41 mutant mice, which display lethal disruption of sarcomeres and aberrant expression of muscle structural and contractile proteins, mimicking the hallmarks of the human disease. We show that KLHL41 is poly-ubiquitinated and acts, at least in part, by preventing aggregation and degradation of Nebulin, an essential component of the sarcomere...
August 9, 2017: ELife
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