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Congenital Myopathies

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A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia.

María Carmen De Mingo Alemany, Luis Mifsud Grau, Francisca Moreno Macián, Belén Ferrer Lorente, Sara León Cariñena,

Congenital hyperinsulinemic hypoglycemia is the most frequent cause of persistent and recurrent hypoglycemia in the first years of life and in many patients rare genetic variants can be identified. Recently a case of congenital hyperinsulinemic hypoglycemia and a severe neurodevelopmental syndrome due to a mutation in the voltage-gated Cav1.3 Ca2+ ... Read more >>

Channels (Austin) (Channels (Austin, Tex.))
[2020, 14(1):175-180]

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Scission, a critical step in autophagosome formation.

Yuchen Lei, Daniel J Klionsky,

A key feature of macroautophagy (hereafter autophagy) is the formation of the phagophore, a double-membrane compartment sequestering cargos and finally maturing into a vesicle termed an autophagosome; however, where these membranes originate from is not clear. In a previous study, researchers from the Rubinsztein lab proposed a model in which ... Read more >>

Autophagy (Autophagy)
[2020, :1-3]

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Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice.

Moran Elbaz, Alexis Ruiz, Sven Nicolay, Chiara Tupini, Christoph Bachmann, Jan Eckhardt, Sofia Benucci, Pawel Pelczar, Susan Treves, Francesco Zorzato,

Mutations in the ryanodine receptor 1 (RYR1) gene are associated with several human congenital myopathies including the dominantly inherited central core disease and exercise- induced rhabdomyolysis and the more severe recessive phenotypes including multiminicore disease, centronuclear myopathy and congenital fiber type disproportion. Within the latter group, those carrying a hypomorphic ... Read more >>

J. Biol. Chem. (The Journal of biological chemistry)
[2020, :]

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Update on Congenital Myopathies in Adulthood.

George Konstantinos Papadimas, Sophia Xirou, Evangelia Kararizou, Constantinos Papadopoulos,

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(10):]

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Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol,

BACKGROUND:GLE1 (GLE1, RNA Export Mediator, OMIM#603371) variants are associated with severe autosomal recessive motor neuron diseases, that are lethal congenital contracture syndrome 1 (LCCS1, OMIM#253310) and congenital arthrogryposis with anterior horn cell disease (CAAHD, OMIM#611890). The clinical spectrum of GLE1-related disorders has been expanding these past years, including with adult-onset ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, :e1277]

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Myopathies with finger flexor weakness: Not only inclusion-body myositis.

Stefan Nicolau, Teerin Liewluck, Margherita Milone,

Muscle disorders are characterized by differential involvement of various muscle groups. Among these, weakness predominantly affecting finger flexors is an uncommon pattern, most frequently found in sporadic inclusion-body myositis. This finding is particularly significant when the full range of histopathological findings of inclusion-body myositis is not found on muscle biopsy. ... Read more >>

Muscle Nerve (Muscle & nerve)
[2020, :]

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A location, location, location mutation impairs DNM2-mediated release of nascent autophagosomes from recycling endosomes.

Claudia Puri, David C Rubinsztein,

Elucidation of the membranes contributing to autophagosomes has been a critical question in the field, and an area of active research. Recently, we showed that key events in autophagosome formation, from PtdIns3P formation/WIPI2 recruitment to LC3-GABARAP membrane conjugation, occur on the RAB11A-positive compartment (recycling endosomes). This observation raised the question ... Read more >>

Autophagy (Autophagy)
[2020, 16(7):1353-1354]

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Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report.

Yuki Yokota, Makoto Hara, Takayoshi Akimoto, Tomotaka Mizoguchi, Yu-Ichi Goto, Ichizo Nishino, Satoshi Kamei, Hideto Nakajima,

BACKGROUND:A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described. CASE PRESENTATION:A 74-year-old Japanese man was admitted to another hospital due to acute onset of cognitive impairment and psychosis. After 7 days he was ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):247]

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Cognitive Deficits in Myopathies.

Eleni Peristeri, Athina-Maria Aloizou, Paraskevi Keramida, Zisis Tsouris, Vasileios Siokas, Alexios-Fotios A Mentis, Efthimios Dardiotis,

Myopathies represent a wide spectrum of heterogeneous diseases mainly characterized by the abnormal structure or functioning of skeletal muscle. The current paper provides a comprehensive overview of cognitive deficits observed in various myopathies by consulting the main libraries (Pubmed, Scopus and Google Scholar). This review focuses on the causal classification ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(11):]

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Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.

Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang,

Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes. HSAN-VI, perhaps the most notable type, is an autosomal recessive disease, which manifests as the ... Read more >>

Front Genet (Frontiers in Genetics)
[2020, 11:492]

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Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.

John P Franklin, Johnathan Cooper-Knock, Aravindhan Baheerathan, Tobias Moll, Roope Männikkö, Mark Heverin, Orla Hardiman, Pamela J Shaw, Michael G Hanna,

Amyotrophic lateral sclerosis (ALS) is an invariably fatal adult-onset neurodegenerative disorder; approximately 10% of ALS is monogenic but all ALS exhibits significant heritability. The skeletal muscle sodium channelopathies are a group of inherited, non-dystrophic ion channel disorders caused by heterozygous point mutations in the SCN4A gene, leading to clinical manifestations ... Read more >>

Amyotroph Lateral Scler Frontotemporal Degener (Amyotrophic lateral sclerosis & frontotemporal degeneration)
[2020, :1-4]

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Cardiac involvement in a cross-sectional cohort of myotonic dystrophies and other skeletal myopathies.

Johannes Schmid, Meinrad Beer, Andrea Berghold, Tatjana Stojakovic, Hubert Scharnagl, Benjamin Dieplinger, Stefan Quasthoff, Josepha S Binder, Peter P Rainer,

AIMS:Cardiac involvement in myopathies that primarily affect the skeletal muscle is variable and may be subtle, necessitating sensitive diagnostic approaches. Here, we describe the prevalence of cardiac abnormalities in a cohort of patients with skeletal muscle disease presenting at a tertiary care neuromuscular centre. METHODS AND RESULTS:We systematically investigated patients ... Read more >>

ESC Heart Fail (ESC heart failure)
[2020, :]

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First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC.

Heike Kölbel, Andreas Roos, Peter F M van der Ven, Teresinha Evangelista, Kay Nolte, Katherine Johnson, Ana Töpf, Michael Wilson, Wolfram Kress, Albert Sickmann, Volker Straub, Laxmikanth Kollipara, Joachim Weis, Dieter O Fürst, Ulrike Schara,

Filamin C (encoded by the FLNC gene) is a large actin-cross-linking protein involved in shaping the actin cytoskeleton in response to signaling events both at the sarcolemma and at myofibrillar Z-discs of cross-striated muscle cells. Multiple mutations in FLNC are associated with myofibrillar myopathies of autosomal dominant inheritance. Here, we ... Read more >>

Hum. Mutat. (Human mutation)
[2020, :]

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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Andres Nascimento, Carlos Ortez, Daniel Natera-de Benito, Montse Olive, Laura Gonzalez-Mera, Adolfo Lopez de Munain, Miren Zulaica, Juan Jose Poza, Ivonne Jerico, Laura Torne, Pau Riera, Jose Milisenda, Aurora Sanchez, Gloria Garrabou, Isabel Llano, Marcos Madruga-Garrido, Pia Gallano,

The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally ... Read more >>

Genes (Basel) (Genes)
[2020, 11(5):]

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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.

Kilian Mazaleyrat, Cherif Badja, Natacha Broucqsault, Raphaël Chevalier, Camille Laberthonnière, Camille Dion, Lyla Baldasseroni, Claire El-Yazidi, Morgane Thomas, Richard Bachelier, Alexandre Altié, Karine Nguyen, Nicolas Lévy, Jérôme D Robin, Frédérique Magdinier,

Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling. However, the number protocols for generating mature muscle fibers with sarcolemmal organization using iPSCs remain limited, and partly mimic the complexity of mature skeletal muscle. Methods: We used a ... Read more >>

Cells (Cells)
[2020, 9(6):]

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Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.

Fernando Ostos, Pilar Alcantara Miranda, Aurelio Hernández-Laín, Cristina Domínguez-González,

Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Mutations in novel genes have been described in recent years. Among these, MUSK gene mutations are extremely rare, with only 8 families identified worldwide to date. We report a Spanish case, a carrier of one ... Read more >>

J Clin Neuromuscul Dis (Journal of clinical neuromuscular disease)
[2020, 21(4):222-224]

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Overexpression of Staufen1 in DM1 mouse skeletal muscle exacerbates dystrophic and atrophic features.

Tara E Crawford Parks, Kristen A Marcellus, Christine Péladeau, Bernard J Jasmin, Aymeric Ravel-Chapuis,

In Myotonic Dystrophy Type 1 (DM1), the CUG expansion (CUGexp) in the 3'UTR of the dystrophia myotonica protein kinase (DMPK) mRNAs affects the homeostasis of RNA-binding proteins, causing the multiple symptoms of DM1. We have previously reported that Staufen1 is increased in skeletal muscles from DM1 mice and patients, and ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, :]

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Efficacy of Botulinum Toxin for Treating Sialorrhea in Neuromuscular Conditions.

Harsh Singh, Yash Nene, Tejas R Mehta, Raghav Govindarajan,

Background: Drooling related to bulbar weakness and dysfunction is a common concern in patients with neuromuscular disease. While there are numerous medications to manage sialorrhea, they are often limited by side effects and lack of efficacy. Botulinum toxin has shown to benefit ALS patients in a few studies, but there ... Read more >>

Front Neurol (Frontiers in Neurology)
[2020, 11:513]

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The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy.

Xin Chen, Yun-Qian Gao, Yan-Yan Zheng, Wei Wang, Pei Wang, Juan Liang, Wei Zhao, Tao Tao, Jie Sun, Lisha Wei, Yeqiong Li, Yuwei Zhou, Zhenji Gan, Xuena Zhang, Hua-Qun Chen, Min-Sheng Zhu,

Mutations in the myotubularin 1 (MTM1) gene can cause the fatal disease X-linked centronuclear myopathy (XLCNM), but the underlying mechanism is incompletely understood. In this report, using an Mtm1 -/y disease model, we found that expression of the intragenic microRNA miR-199a-1 is up-regulated along with that of its host gene, ... Read more >>

J. Biol. Chem. (The Journal of biological chemistry)
[2020, 295(26):8656-8667]

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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.

Catherine Koch, Suzie Buono, Alexia Menuet, Anne Robé, Sarah Djeddi, Christine Kretz, Raquel Gomez-Oca, Marion Depla, Arnaud Monseur, Leen Thielemans, Laurent Servais, , Jocelyn Laporte, Belinda S Cowling,

Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking. The Mtm1 -/y mouse is a faithful model for XL-CNM, due to myotubularin 1 (MTM1) loss-of-function mutations. Using both an unbiased ... Read more >>

Mol Ther Methods Clin Dev (Molecular Therapy. Methods & Clinical Development)
[2020, 17:1178-1189]

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Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.

Fatema Al Amrani, Carolina Gorodetsky, Lili-Naz Hazrati, Kimberly Amburgey, Hernan D Gonorazky, James J Dowling,

Neurol Genet (Neurology. Genetics)
[2020, 6(3):e423]

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Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi,

Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these ... Read more >>

PLoS ONE (PloS one)
[2020, 15(5):e0233017]

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The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.

Kit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, Sheila Wong, Hencher H C Lee, Sharon T H Fung, Genevieve P G Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K S Ng, Mullin H C Yu, Jasmine L F Fung, Mandy H Y Tsang, Kelvin Y K Chan, Sophelia H S Chan, Anita S Y Kan, Brian H Y Chung,

BACKGROUND:Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese. METHODS:We report six cases of nemaline myopathy 8 which involves the c.1516A>C ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(7):e1229]

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Targeted Treatments for Inherited Neuromuscular Diseases of Childhood.

Alex J Fay, Renatta Knox, Erin E Neil, Jonathan Strober,

In the past decade, the number of genes linked to neuromuscular diseases of childhood has expanded dramatically, and this genetic information is forming the basis for gene-specific and even mutation-specific therapies. At the forefront of these advances are the two recently approved treatments for spinal muscular atrophy: one, an antisense ... Read more >>

Semin Neurol (Seminars in neurology)
[2020, 40(3):335-341]

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A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.

Claudia Puri, Marco M Manni, Mariella Vicinanza, Christine Hilcenko, Ye Zhu, Gautam Runwal, Eleanna Stamatakou, Fiona M Menzies, Kamel Mamchaoui, Marc Bitoun, David C Rubinsztein,

Autophagy involves engulfment of cytoplasmic contents by double-membraned autophagosomes, which ultimately fuse with lysosomes to enable degradation of their substrates. We recently proposed that the tubular-vesicular recycling endosome membranes were a core platform on which the critical early events of autophagosome formation occurred, including LC3-membrane conjugation to autophagic precursors. Here, ... Read more >>

Dev. Cell (Developmental cell)
[2020, 53(2):154-168.e6]

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