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Congenital muscular dystrophy

Tamao Endo
Glycosylation is an important posttranslational modification in mammals. The glycans of glycoproteins are classified into two groups, namely, N-glycans and O-glycans, according to their glycan-peptide linkage regions. Recently, O-mannosyl glycan, an O-glycan, has been shown to be important in muscle and brain development. A clear relationship between O-mannosyl glycans and the pathomechanisms of some congenital muscular dystrophies has been established in humans. Ribitol-5-phosphate is a newly identified glycan component in mammals, and its biosynthetic pathway has been elucidated...
2019: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
Heike Kölbel, Angela Abicht, Oliver Schwartz, Istvan Katona, Werner Paulus, Eva Neuen-Jacob, Joachim Weis, Ulrike Schara
AIMS: To define the neurological and neuropathological alterations caused by SYNE1 mutations. METHODS: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. RESULTS: Three different phenotypes were discerned. Two patients showed progressive ataxia, mental retardation, neuropathy and radially deviated thumbs (spinocerebellar ataxia, SCAR, type 8 phenotype)...
December 29, 2018: European Journal of Paediatric Neurology: EJPN
Woori Jang, Yonggoo Kim, Eunhee Han, Joonhong Park, Hyojin Chae, Ahlm Kwon, Hayoung Choi, Jiyeon Kim, Jung Ok Son, Sang Jee Lee, Bo Young Hong, Dae Hyun Jang, Ji Yoon Han, Jung Hyun Lee, So Young Kim, In Goo Lee, In Kyung Sung, Yeonsook Moon, Myungshin Kim, Joo Hyun Park
BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). METHODS: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients...
May 2019: Annals of Laboratory Medicine
Mohamed Kazamel, Margherita Milone
Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type 1 and type 2 fibers. Most cases of multiminicore disease typically present with early-onset axial weakness, respiratory insufficiency, scoliosis, and rigid spine. There is no correlation between the frequency of minicores and clinical severity. Multiminicore disease is genetically heterogeneous and can result from recessive or dominant mutations...
January 3, 2019: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Alasdair J Wood, Naomi Cohen, Veronica Joshi, Mei Li, Adam Costin, Lucy Hersey, Emily A McKaige, Jessica D Manneken, Carmen Sonntag, Lee B Miles, Ashley Siegel, Peter D Currie
Deficiency of muscle basement membrane (MBM) component laminin-α2, leads to muscular dystrophy congenital type 1a MDC1a, a currently untreatable myopathy. Laminin-α2 has two main binding partners within the MBM, dystroglycan and integrin. Integrins co-ordinate both cell adhesion and signalling, however there is little mechanistic insight into integrin's function at the MBM. In order to study integrin's role in basement membrane development and how this relates to the MBM's capacity to handle force, an itgβ1...
December 19, 2018: Human Molecular Genetics
Burcu Balci-Hayta, Beril Talim, Gulsev Kale, Pervin Dincer
BACKGROUND: Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses. An important enzyme, known as Like-acetylglucosaminyltransferase (LARGE), has been shown to transfer repeating units of -glucuronic acid-β1,3-xylose-α1,3- (matriglycan) to αDG that is required for functional receptor as an extracellular matrix protein scaffold. The reduction in the amount of LARGE-dependent matriglycan result in heterogeneous forms of dystroglycanopathy that is associated with hypoglycosylation of αDG and a consequent lack of ligand-binding activity...
December 15, 2018: BMC Neurology
Markus T Sainio, Salla Välipakka, Bruno Rinaldi, Helena Lapatto, Anders Paetau, Simo Ojanen, Virginia Brilhante, Manu Jokela, Sanna Huovinen, Mari Auranen, Johanna Palmio, Sylvie Friant, Emil Ylikallio, Bjarne Udd, Henna Tyynismaa
OBJECTIVE: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy. METHODS: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. A yeast complementation assay was used to determine the biochemical consequences of the genetic variants...
December 4, 2018: Journal of Neurology
Daniel Schmidtke, Charlotte Lempp, Marko Dubicanac, Ute Radespiel, Elke Zimmermann, Wolfgang Baumgärtner, Sabine Kästner, Martin Meier, Anne Balkema-Buschmann, R Alan Harris, Muthuswamy Raveendran, Donna M Muzny, Kim C Worley, Jeffrey Rogers
Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (Microcebusmurinus), a small NHP species for which the genomic sequence recently became available. The female lemur we present heredied on postnatal day 125. This lemur had impaired development of motor skills and showed severe ataxia and tremors. In addition, hearing seemed normal whereas ophthalmic examination revealed incipient bilateral cataracts, abnormal pigmentation in the lens of the left eye, and a missing optokinetic nystagmus, which indicated impaired vision...
November 28, 2018: Comparative Medicine
Wei-Tsun Kao, Yung-Hao Tseng, Yuh-Jyh Jong, Tai-Heng Chen
BACKGROUND: No previous studies have explored emergency medical care for children with chronic neuromuscular disorders (NMDs). We aimed to determine the major reasons for the emergency room (ER) readmission of pediatric patients with NMDs and suggest changes to the care plan to decrease readmissions. METHODS: Children with chronic NMDs (aged <18 years) who visited a medical center-based ER between January 2005 and January 2015 were included. The following data were extracted from the patient's ER records: presentations; demographic data, including sex and age; NMD diagnosis; triage classification; emergency examination; initial management and outcomes...
October 2, 2018: Pediatrics and Neonatology
Pengzhi Hu, Lamei Yuan, Hao Deng
Protein O-mannosyltransferase 1 (POMT1) is a critical enzyme participating in the first step of protein O-mannosylation. Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a broad phenotypic spectrum of congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy, accompanied by variable degrees of intellectual disability, brain defects, and ocular abnormalities...
October 2018: Mutation Research
Bernardo Moreira Soares Oliveira, Kinga I Gawlik, Madeleine Durbeej, Johan Holmberg
Circulating microRNAs (miRNAs) are being considered as non-invasive biomarkers for disease progression and clinical trials. Congenital muscular dystrophy with deficiency of laminin α2 chain (LAMA2-CMD) is a very severe form of muscular dystrophy, for which no treatment is available. In order to identify LAMA2-CMD biomarkers we have profiled miRNAs in urine from the dy2J / dy2J mouse model of LAMA2-CMD at three distinct time points (representing asymptomatic, initial and established disease). We demonstrate that unique groups of miRNAs are differentially expressed at each time point...
August 27, 2018: PLoS Currents
Heather B Steele-Stallard, Luca Pinton, Shilpita Sarcar, Tanel Ozdemir, Sara M Maffioletti, Peter S Zammit, Francesco Saverio Tedesco
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA . The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the inner nuclear membrane. Laminopathies show striking tissue specificity, with subtypes affecting striated muscle, peripheral nerve, and adipose tissue, while others cause multisystem disease with accelerated aging. Although several pathogenic mechanisms have been proposed, the exact pathophysiology of laminopathies remains unclear, compounded by the rarity of these disorders and lack of easily accessible cell types to study...
2018: Frontiers in Physiology
Cibely C Fontes-Oliveira, Bernardo M Soares Oliveira, Zandra Körner, Vahid M Harandi, Madeleine Durbeej
Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe muscle disorder with complex underlying pathogenesis. We have previously employed profiling techniques to elucidate molecular patterns and demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models. Thus, we hypothesize that skeletal muscle metabolism may be a promising pharmacological target to improve muscle function in LAMA2-CMD. Here, we have investigated whether the multifunctional medication metformin could be used to reduce disease in the dy2J /dy2J mouse model of LAMA2-CMD...
November 2, 2018: Scientific Reports
Samantha LoRusso, Benjamin Weiner, W David Arnold
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms...
October 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Yang Yu, Wendy Cozen, Amie E Hwang, Myles G Cockburn, John Zadnick, Ann S Hamilton, Thomas Mack, Jane C Figueiredo
BACKGROUND: Inherited factors and maternal behaviors are thought to play an important role in the etiology of several congenital malformations. Twin studies can offer additional evidence regarding the contribution of genetic and lifestyle factors to common birth anomalies, but few large-scale studies have been reported. METHODS: We included data from twins (20,803 pairs) from the population-based California Twin Program. We compared concordance in monozygotic (MZ) to dizygotic (DZ) twins for the following birth anomalies: clubfoot, oral cleft, spina bifida, muscular dystrophy, deafness, cerebral palsy, strabismus, and congenital heart defects...
September 29, 2018: Journal of Epidemiology
Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D'Amico, Filippo M Santorelli
BACKGROUND: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes...
September 26, 2018: Orphanet Journal of Rare Diseases
Keiko Ishigaki, Chikoto Ihara, Harumasa Nakamura, Madoka Mori-Yoshimura, Kazushi Maruo, Mariko Taniguchi-Ikeda, En Kimura, Terumi Murakami, Takatoshi Sato, Tatsushi Toda, Hisanobu Kaiya, Makiko Osawa
Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013...
October 2018: Neuromuscular Disorders: NMD
Xiao-Wen Hong, Yan-Hui Chen
Congenital muscular dystrophy type 1C (MDC1C) is caused by the homozygous or compound heterozygous mutations of the FKRP gene. This article reported the clinical and mutation features of a child with MDC1C. The boy aged 8 months visited the hospital due to delayed development. As for clinical manifestations, the boy could not turn over or sit stably by himself, and there was a significant reduction in muscle tension; biceps reflex in both upper extremities and patellar tendon reflex and Achilles tendon reflex in both lower extremities could not be induced...
September 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Kumiko Ishiguro, Takahiro Nakayama, Masaru Yoshioka, Terumi Murakami, Sachiko Kajino, Minobu Shichiji, Takatoshi Sato, Naomi Hino-Fukuyo, Satoshi Kuru, Makiko Osawa, Satoru Nagata, Mariko Okubo, Nobuyuki Murakami, Yukiko K Hayashi, Ichizo Nishino, Keiko Ishigaki
Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3...
October 2018: Neuromuscular Disorders: NMD
Yuko Hara, Yoshitaka Mizobe, Shouta Miyatake, Hotake Takizawa, Tetsuya Nagata, Toshifumi Yokota, Shin'ichi Takeda, Yoshitsugu Aoki
Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches available for the treatment of several neuromuscular disorders, including Duchenne muscular dystrophy. The main weakness of this treatment arises from the low efficiency and sporadic nature of delivery of the neutrally charged PMO into muscle fibers, the mechanism of which is unknown.Recently, using wild-type and dystrophic mdx52 mice, we showed that muscle fibers took up PMO more efficiently during myotube formation...
2018: Methods in Molecular Biology
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