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Congenital muscular dystrophy

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https://www.readbyqxmd.com/read/27932460/protein-o-linked-mannose-%C3%AE-1-4-n-acetylglucosaminyltransferase-2-pomgnt2-is-a-gatekeeper-enzyme-for-functional-glycosylation-of-%C3%AE-dystroglycan
#1
Stephanie M Halmo, Danish Singh, Sneha Patel, Shuo Wang, Melanie Edlin, Geert-Jan Boons, Kelley W Moremen, David Live, Lance Wells
Disruption of the O-mannosylation pathway involved in functional glycosylation of α-dystroglycan gives rise to congenital muscular dystrophies. Protein O-linked mannose β-1,4-N-acetylglucosaminyltransferase 2 (POMGNT2) catalyzes the first step towards the functional matriglycan structure on α-dystroglycan that is responsible for binding extracellular matrix proteins and certain arenaviruses. Alternatively, protein O-linked mannose β-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) catalyzes the first step towards other various glycan structures present on α-dystroglycan of unknown function...
December 8, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27932089/clinical-and-neuroimaging-findings-in-two-brothers-with-limb-girdle-muscular-dystrophy-due-to-lama2-mutations
#2
Elizabeth Harris, Meriel McEntagart, Ana Topf, Hanns Lochmüller, Kate Bushby, Caroline Sewry, Volker Straub
Recessive mutations in LAMA2 commonly cause congenital muscular dystrophy (MDC1A) and, rarely, limb girdle muscular dystrophy (LGMD). We report 2 brothers who presented in adulthood with LGMD due to novel mutations in LAMA2 identified by whole exome sequencing (WES). Muscle biopsy more than 30 years ago demonstrated dystrophic changes but was not available for immunoanalysis. Muscle MRI demonstrated involvement of peripheral muscle with internal sparing classically seen in collagen-VI related disorders. Extensive genetic testing, including COL6A1/2/3, was performed prior to WES...
November 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27915985/congenital-muscular-dystrophy-1d-causes-matrix-metalloproteinase-activation-and-blood-brain-barrier-impairment
#3
Aryadnne L Schactae, Daphne Plamas, Monique Michels, Jaqueline S Generoso, Tatiana Barichello, Felipe Dal-Pizzol, Mariz Vainzof, Clarissa M Comim
Congenital Muscular Dystrophy type 1D (CMD1D) is characterized by an abnormal glycosylation of α-DG (α-dystroglycan) and associate to central nervous system (CNS) abnormalities such cognitive impairment. The purpose of the research were evaluate the blood-brain barrier permeability (BBB) permeability and matrix metalloproteinases (MMP) -2 and -9 in adult Largemyd-/- mice in order to understand the physiopathology of brain involvement during the CMD1D process. To this aim, we used adult homozygous Largemyd-/- (mutation in Large), heterozygous Largemyd+/- as well as wild-type (C57BL/6) mice...
December 1, 2016: Current Neurovascular Research
https://www.readbyqxmd.com/read/27888415/magnetic-resonance-imaging-patterns-of-muscle-involvement-in-genetic-muscle-diseases-a-systematic-review
#4
REVIEW
Doris G Leung
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review...
November 25, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27876398/dropped-head-congenital-muscular-dystrophy-caused-by-de-novo-mutations-in-lmna
#5
Pakize Karaoglu, Nicolas Quizon, Matthias Pergande, Haicui Wang, Ayşe Ipek Polat, Ayca Ersen, Erdener Özer, Lena Willkomm, Semra Hiz Kurul, Raúl Heredia, Uluç Yis, Duygu Selcen, Sebahattin Çirak
BACKGROUND: Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. CASE DESCRIPTION: Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27875025/adherence-and-barriers-to-hyperinsufflation-in-children-with-congenital-muscular-dystrophy
#6
John E Pascoe, Hemant Sawnani, Oscar H Mayer, Keith McConnell, Joseph M McDonough, Cynthia White, Anne M Rutkowski, Raouf S Amin, Avani C Modi
BACKGROUND: Congenital muscular dystrophy (CMD) is a rare, inherited neuromuscular disease characterized by progressive muscle weakness, thoracic insufficiency, and ultimately respiratory failure. Adherence to respiratory therapies in children with neuromuscular disorders is unknown. This study examined the multimodal assessment of adherence and barriers to 15 min, twice daily hyperinsufflation in children with CMD. Adherence was hypothesized to be greater than 50% and discomfort, embarrassment, and difficulty finding time were hypothesized to be barriers...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27874200/two-patients-with-gmppb-mutation-the-overlapping-phenotypes-of-limb-girdle-myasthenic-syndrome-and-lgmd2t-dystroglycanopathy
#7
Federica Montagnese, Elisabeth Klupp, Dimitrios C Karampinos, Saskia Biskup, Dieter Gläser, Jan S Kirschke, Benedikt Schoser
INTRODUCTION: Mutations in the GDP-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital muscular dystrophies (CMDs), limb-girdle muscular dystrophy (LGMD2T), and congenital myasthenic syndromes (CMSs); overall, 41 patients have been described. METHODS: Two patients presented with a myasthenic syndrome (patient 1, 74-year-old) and rhabdomyolysis (patient 2, 23-year-old). Examinations included repetitive nerve stimulation, muscle biopsy and whole-body MRI (WBMRI); next generation sequencing facilitated diagnosis...
November 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27859369/childhood-macrophagic-myofasciitis-a-series-from-the-indian-subcontinent
#8
Aanchal Kakkar, Madhu Rajeshwari, Aasma Nalwa, Vaishali Suri, Chitra Sarkar, Biswaroop Chakrabarty, Sheffali Gulati, Mehar C Sharma
INTRODUCTION: Macrophagic myofasciitis (MMF) is a rare disorder, reported mainly in European adults, with occasional childhood cases. We report a series of 6 patients with pediatric MMF from the Indian subcontinent. METHODS: Clinical details, creatine kinase levels, and results of electromyography are described for patients diagnosed with MMF. Fresh-frozen and formalin-fixed muscle biopsies were evaluated by hematoxylin-eosin staining, histochemistry, immunohistochemistry, and electron microscopy...
November 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27826760/myotonic-dystrophy-type-1-management-and-therapeutics
#9
REVIEW
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27818386/pediatric-necrotizing-myopathy-associated-with-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-antibodies
#10
Wen-Chen Liang, Akinori Uruha, Shigeaki Suzuki, Nobuyuki Murakami, Eri Takeshita, Wan-Zi Chen, Yuh-Jyh Jong, Yukari Endo, Hirofumi Komaki, Tatsuya Fujii, Yutaka Kawano, Madoka Mori-Yoshimura, Yasushi Oya, Jianying Xi, Wenhua Zhu, Chongbo Zhao, Yurika Watanabe, Keisuke Ikemoto, Atsuko Nishikawa, Kohei Hamanaka, Satomi Mitsuhashi, Norihiro Suzuki, Ichizo Nishino
OBJECTIVE: Antibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) have recently been associated with immune-mediated necrotizing myopathy, especially in patients with statin exposure. As the data are very limited concerning phenotypes and treatment in paediatric patients, we aimed to identify the paediatric patients positive for anti-HMGCR antibodies and clarify their features and therapeutic strategies. METHODS: We screened 62 paediatric patients who were clinically and/or pathologically suspected to have inflammatory myopathy for anti-HMGCR antibodies...
November 6, 2016: Rheumatology
https://www.readbyqxmd.com/read/27818010/the-gross-motor-function-measure-is-valid-for-fukuyama-congenital-muscular-dystrophy
#11
Takatoshi Sato, Michiru Adachi, Kaho Nakamura, Masaya Zushi, Keisuke Goto, Terumi Murakami, Kumiko Ishiguro, Minobu Shichiji, Kayoko Saito, Tetsuo Ikai, Makiko Osawa, Izumi Kondo, Satoru Nagata, Keiko Ishigaki
Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. FCMD is an autosomal recessive disorder caused by mutations in the fukutin gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities, and mental retardation associated with cortical migration defects, and most patients are never able to walk. To date, the development of a quantitative motor scale for FMCD has been difficult due to the moderate-to-severe intellectual impairment that accompanies FCMD...
September 20, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27812179/protein-o-mannosylation-in-the-murine-brain-occurrence-of-mono-o-mannosyl-glycans-and-identification-of-new-substrates
#12
Markus F Bartels, Patrick R Winterhalter, Jin Yu, Yan Liu, Mark Lommel, Frank Möhrlen, Huaiyu Hu, Ten Feizi, Ulrika Westerlind, Thomas Ruppert, Sabine Strahl
Protein O-mannosylation is a post-translational modification essential for correct development of mammals. In humans, deficient O-mannosylation results in severe congenital muscular dystrophies often associated with impaired brain and eye development. Although various O-mannosylated proteins have been identified in the recent years, the distribution of O-mannosyl glycans in the mammalian brain and target proteins are still not well defined. In the present study, rabbit monoclonal antibodies directed against the O-mannosylated peptide YAT(α1-Man)AV were generated...
2016: PloS One
https://www.readbyqxmd.com/read/27798092/igf-1-gh-axis-enhances-losartan-treatment-in-lama2-related-muscular-dystrophy
#13
Anthony Accorsi, Ajay Kumar, Younghwa Rhee, Alex Miller, Mahasweta Girgenrath
As the complexities of dystrophic pathology have been elucidated over the last few years, it has become increasingly clear that primary monogenetic defects result in multiple secondary pathologies capable of autonomously driving disease progression. Consequently, single-mode therapies fail to comprehensively ameliorate all aspects of pathology. Lama2-related muscular dystrophy (MDC1A) is a devastating congenital muscular dystrophy caused by mutations in the LAMA2 gene that results in multi-faceted secondary pathologies that include inflammation, fibrosis, apoptosis, and necrosis leading to severe muscle weakness and minimal postnatal growth...
October 24, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27784478/-correlation-between-thigh-muscle-magnetic-resonance-imaging-findings-and-clinical-features-of-congenital-muscular-dystrophies-a-preliminary-study
#14
L L Wang, J Du, X N Fu, Y B Fan, C J Wei, J Ding, D D Tan, J X Xiao, H Xiong
Objective: To analyze the clinical and magnetic resonance imaging (MRI) features of congenital muscular dystrophy (CMD) to improve the diagnostic level. Method: Clinical manifestations and thigh muscle MRI results of 8 cases of CMD diagnosed on genetic level from April 2013 to November 2015 were investigated. MRI was performed on the thigh muscles of all cases. Fatty infiltration of different muscles described in T1WI was graded to evaluate. Clinical symptoms and signs, as well as muscle MRI features were analyzed by statistical description...
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27773428/biallelic-mutations-in-tmtc3-encoding-a-transmembrane-and-tpr-containing-protein-lead-to-cobblestone-lissencephaly
#15
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Esra Dikoglu, Jennifer L Silhavy, Caner Caglar, Damir Musaev, Beate Albrecht, Kevin P Campbell, Tobias Willer, Mariam Almuriekhi, Ahmet Okay Çağlayan, Jiri Vajsar, Kaya Bilgüvar, Gonul Ogur, Rami Abou Jamra, Murat Günel, Joseph G Gleeson
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27733679/the-muscular-dystrophy-gene-tmem5-encodes-a-ribitol-%C3%AE-1-4-xylosyltransferase-required-for-the-functional-glycosylation-of-dystroglycan
#16
Hiroshi Manya, Yoshiki Yamaguchi, Motoi Kanagawa, Kazuhiro Kobayashi, Michiko Tajiri, Keiko Akasaka-Manya, Hiroko Kawakami, Mamoru Mizuno, Yoshinao Wada, Tatsushi Toda, Tamao Endo
A defect in O-mannosyl glycan is the cause of α-dystroglycanopathy, a group of congenital muscular dystrophies caused by aberrant α-dystroglycan (α-DG) glycosylation. Recently, the entire structure of O-mannosyl glycan, [3GlcAβ1-3Xylα1]n-3GlcAβ1-4Xyl-Rbo5P-1Rbo5P-3GalNAcβ1-3GlcNAcβ1-4 (phospho-6)Manα1-, which is required for the binding of α-DG to extracellular matrix ligands, has been proposed. However, the linkage of the first Xyl residue to ribitol 5-phosphate (Rbo5P) is not clear. TMEM5 is a gene product responsible for α-dystroglycanopathy and was reported as a potential enzyme involved in this linkage formation, although the experimental evidence is still incomplete...
November 18, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27716553/fukutin-mutations-in-fukuyama-congenital-muscular-dystrophy-do-not-cause-noncompaction
#17
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
September 28, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27708273/the-sensitivity-of-exome-sequencing-in-identifying-pathogenic-mutations-for-lgmd-in-the-united-states
#18
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart Gw Lidov, Catherine A Brownstein, David M Margulies, Timothy W Yu, Mustafa A Salih, Louis M Kunkel, Daniel G MacArthur, Peter B Kang
The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Pathogenic mutations and cosegregation patterns were confirmed by Sanger sequencing. Twenty-two families (40%) had novel and previously reported pathogenic mutations, primarily in LGMD genes, and also in genes for Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital myopathy, myofibrillar myopathy, inclusion body myopathy and Pompe disease...
October 6, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27707967/neuronal-dystroglycan-is-necessary-for-formation-and-maintenance-of-functional-cck-positive-basket-cell-terminals-on-pyramidal-cells
#19
Simon Früh, Jennifer Romanos, Patrizia Panzanelli, Daniela Bürgisser, Shiva K Tyagarajan, Kevin P Campbell, Mirko Santello, Jean-Marc Fritschy
: Distinct types of GABAergic interneurons target different subcellular domains of pyramidal cells, thereby shaping pyramidal cell activity patterns. Whether the presynaptic heterogeneity of GABAergic innervation is mirrored by specific postsynaptic factors is largely unexplored. Here we show that dystroglycan, a protein responsible for the majority of congenital muscular dystrophies when dysfunctional, has a function at postsynaptic sites restricted to a subset of GABAergic interneurons...
October 5, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27695335/expanded-dmpk-repeats-in-dizygotic-twins-referred-for-diagnosis-of-autism-versus-absence-of-expanded-dmpk-repeats-at-screening-of-330-children-with-autism
#20
Zuzana Musova, Miroslava Hancarova, Marketa Havlovicova, Radka Pourova, Michal Hrdlicka, Josef Kraus, Marie Trkova, David Stejskal, Zdenek Sedlacek
Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD...
2016: Neuropsychiatric Disease and Treatment
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