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Congenital Muscular Dystrophy

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Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.

Anne T Bertrand, Astrid Brull, Feriel Azibani, Louise Benarroch, Khadija Chikhaoui, Colin L Stewart, Ohad Medalia, Rabah Ben Yaou, Gisèle Bonne,

LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include roles in nuclear resistance to mechanical stress and gene regulation. LMNA ... Read more >>

Cells (Cells)
[2020, 9(4):]

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Systemic Therapy in a RNA Toxicity Mouse Model with an Antisense Oligonucleotide Therapy Targeting a non-CUG sequence within the DMPK 3'UTR RNA.

Ramesh S Yadava, Qing Yu, Mahua Mandal, Frank Rigo, C Frank Bennett, Mani S Mahadevan,

Myotonic dystrophy type 1 (DM1), the most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a (CTG)n tract within the 3' untranslated region (3'UTR) of the DMPK (dystrophia myotonica protein kinase) gene. Mutant DMPK mRNAs are toxic, present in nuclear RNA foci and correlated ... Read more >>

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

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Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies.

Marek Switonski,

Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for ... Read more >>

J. Appl. Genet. (Journal of applied genetics)
[2020, :]

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Lamin Mutations Cause Increased YAP Nuclear Entry in Muscle Stem Cells.

Daniel J Owens, Martina Fischer, Saline Jabre, Sophie Moog, Kamel Mamchaoui, Gillian Butler-Browne, Catherine Coirault,

Mutations in the LMNA gene, encoding the nuclear envelope A-type lamins, are responsible for muscular dystrophies, the most severe form being the LMNA-related congenital muscular dystrophy (L-CMD), with severe defects in myonucleus integrity. We previously reported that L-CMD mutations compromise the ability of muscle stem cells to modulate the yes-associated ... Read more >>

Cells (Cells)
[2020, 9(4):]

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Skeletal muscle CaV1.1 channelopathies.

Bernhard E Flucher,

CaV1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. Consequently, all known CaV1.1-related diseases are muscle diseases and the molecular and cellular disease mechanisms relate to the dual functions of CaV1.1 in ... Read more >>

Pflugers Arch. (Pflugers Archiv : European journal of physiology)
[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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Utility of Repetitive Nerve Stimulation in Myopathies.

Abigail Schwaede, Amber N Buehner, Vamshi K Rao,

Investigators from the Mayo Clinic, Rochester, MN, evaluated 157 patients with confirmed myopathy who had electrodiagnostic studies done between January 2007 and May 2017. ... Read more >>

Pediatr Neurol Briefs (Pediatric Neurology Briefs)
[2020, 34:4]

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Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy.

Vahid M Harandi, Bernardo Moreira Soares Oliveira, Valérie Allamand, Ariana Friberg, Cibely C Fontes-Oliveira, Madeleine Durbeej,

Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe neuromuscular disorder without a cure. Using transcriptome and proteome profiling as well as functional assays, we previously demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models. Reactive oxygen species (ROS) increase when oxygen homeostasis is ... Read more >>

Antioxidants (Basel) (Antioxidants (Basel, Switzerland))
[2020, 9(3):]

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A short form of gross motor function measure for Fukuyama congenital muscular dystrophy.

Takatoshi Sato, Michiru Adachi, Aya Matsuo, Masaya Zushi, Keisuke Goto, Megumi Hirose, Kumiko Ishiguro, Minobu Shichiji, Terumi Murakami, Tetsuo Ikai, Makiko Osawa, Izumi Kondo, Satoru Nagata, Keiko Ishigaki,

OBJECTIVES:The objective of this study was to confirm the validity of a short form of gross motor function measure for Fukuyama congenital muscular dystrophy (GMFM for FCMD). METHODS:This study is a case series and was conducted at the Tokyo Women's Medical University. Fifteen patients with FCMD were assessed using both ... Read more >>

Brain Dev. (Brain & development)
[2020, :]

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Sleep Disorders In Myotonic Dystrophies.

S H Subramony, J P Wymer, B S Pinto, E T Wang,

Myotonic dystrophies (DM), the most common muscular dystrophies, are known to have significant sleep disturbances. We have analyzed the literature on sleep and excessive daytime sleepiness (EDS) in DM over the past 30 years. In this review we provide a brief overview of sleep, sleep disorders and methods of assessment. Then ... Read more >>

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

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Total Hip Arthroplasty for High Hip Dislocation.

Sebastian Hardt, Robert Hube, Carsten Perka,

INTRODUCTION:Total hip arthroplasty in patients with high hip dislocation is a surgically demanding procedure. This is due to the congenital disorder of hip maturation and the resulting anatomical features. The aim of the arthroplasty is implantation of the cup prosthesis in the original centre of rotation, at the same time ... Read more >>

Z Orthop Unfall (Zeitschrift fur Orthopadie und Unfallchirurgie)
[2020, :]

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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

Sarah J Beecroft, Kyle S Yau, Richard J N Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M Duff, Macarena Cabrera-Serrano, Kristen J Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J Lamont, Mark R Davis, Nigel G Laing,

OBJECTIVE:To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. METHODS:We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in Version 2. Both panels used TargetSeqTM probe-based hybridization for ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(3):353-362]

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Peak Cough Flow in Children with Neuromuscular Disorders.

Nidhi Kotwal, Prateek J Shukla, Geovanny F Perez,

PURPOSE:Patients with neuromuscular disease (NMD) experience weakened cough due to progressive respiratory muscle weakness. Peak cough flow (PCF) measurements derived from adult populations are used to recommend initiation of assisted cough therapies. The objective of this study was to characterize PCF values among pediatric patients with NMD. METHODS:Retrospective chart review ... Read more >>

Lung (Lung)
[2020, 198(2):371-375]

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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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Protective effects of mirtazapine in mice lacking the Mbnl2 gene in forebrain glutamatergic neurons: Relevance for myotonic dystrophy 1.

Carla Ramon-Duaso, Jose Rodríguez-Morató, Estela Selma-Soriano, Cristina Fernández-Avilés, Rubén Artero, Rafael de la Torre, Óscar J Pozo, Patricia Robledo,

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized by muscle weakness and wasting and by important central nervous system-related symptoms including impairments in executive functions, spatial abilities and increased anxiety and depression. The Mbnl2 gene has been implicated in several phenotypes consistent with DM1 neuropathology. In this study, ... Read more >>

Neuropharmacology (Neuropharmacology)
[2020, :108030]

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Idiopathic ventricular fibrillation and the V1764fsX1786 frameshift mutation of the SCN5A gene in a myotonic dystrophy type 1 patient.

Takashi Shimoyama, Hiroshi Hayashi, Fumiaki Suzuki, Yasuhiro Nishiyama, Yoshihiro Miyamoto, Takeshi Aiba, Wataru Shimizu, Kazumi Kimura,

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited muscular dystrophy caused by an expanded CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. Cardiac involvements in DM1 are characterized by cardiac conduction delays and atrial or ventricular tachycardia, which increase the risk of sudden cardiac death when ... Read more >>

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

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Hypoglycemia in patients with congenital muscle disease.

Leslie H Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E Leach, Rachel Alvarez, Anne Rutkowski, Natalie D Shaw, A Reghan Foley, Carsten G Bönnemann,

BACKGROUND:Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease (CMD). METHODS:Pediatric patients enrolled in the CMD International Registry (CMDIR) with a history of hypoglycemia were ... Read more >>

BMC Pediatr (BMC pediatrics)
[2020, 20(1):57]

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Publisher Correction: Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.

Hotake Takizawa, Yuko Hara, Yoshitaka Mizobe, Taisuke Ohno, Sadafumi Suzuki, Ken Inoue, Eri Takeshita, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Mikio Hoshino, Hirofumi Komaki, Shin'ichi Takeda, Yoshitsugu Aoki,

An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):2462]

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Engineering adeno-associated virus vectors for gene therapy.

Chengwen Li, R Jude Samulski,

Adeno-associated virus (AAV) vector-mediated gene delivery was recently approved for the treatment of inherited blindness and spinal muscular atrophy, and long-term therapeutic effects have been achieved for other rare diseases, including haemophilia and Duchenne muscular dystrophy. However, current research indicates that the genetic modification of AAV vectors may further facilitate ... Read more >>

Nat. Rev. Genet. (Nature reviews. Genetics)
[2020, 21(4):255-272]

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PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1.

Patrícia Sofia Ferreira Miranda, Ester Preciosa Maio Nunes Pereira, Joana Serra Caetano Baltazar Barreto, Margarida Maria Videira Henriques, Maria Alice Santos Cordeiro Mirante, Lina Maria Jesus Ferreira Cardoso Ramos,

OBJECTIVE:To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. CASE DESCRIPTION:A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, ... Read more >>

Rev Paul Pediatr (Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo)
[2020, 38:e2018294]

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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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Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review.

Junyang Wang, Ming Liu, Wenjie Shang, Zhongqin Chen, Guoping Peng,

BACKGROUND:Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and urinary incontinence. The association between DM1 and NPH is extremely rare. We report a Chinese female ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):53]

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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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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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Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.

Edmar Zanoteli, Priscilla Souza Soares, André Macedo Serafim da Silva, Clara Gontijo Camelo, Alulin Tácio Quadros Santos Monteiro Fonseca, Marco Antônio Veloso Albuquerque, Cristiane Araújo Martins Moreno, Osório Lopes Abath Neto, Gil Monteiro Novo Filho, Leslie Domenici Kulikowski, Umbertina Conti Reed,

OBJECTIVES:Collagen VI-related dystrophies (COL6-RDs) have a broad clinical spectrum and are caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. Despite the clinical variability, two phenotypes are classically recognized: Bethlem myopathy (BM, milder form) and Ullrich congenital muscular dystrophy (UCMD, more severe form), with many patients presenting an intermediate ... Read more >>

Clin Neurol Neurosurg (Clinical neurology and neurosurgery)
[2020, 192:105734]

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