CMD Publications: Dystroglycanopathy

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Congenital Muscular Dystrophy:

General Information
Cardiac
Pulmonary
Pain
alpha-Dystroglycanopathies
Collagen VI
Collagen 12
LAMA2
Limb Girdle Muscular Dystrophy
LMNA & EDMD
SEPN1/SELENON

alpha-Dystroglycanopathies

Limb girdle muscular dystrophy 2I Fact Sheet, 2013
Genetic Variations and Clinical Spectrum of Dystroglycanopathy in a Large Cohort of Chinese Patients, Song, 2020
Characteristic Cochlear Hypoplaisa in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in a-Dystroglycan-Related Muscular Disorders, Talenti, 2020
Profiling of the muscle-specific dystroglycan interctome reveals the role of Hippo signaling in muscular dystrophy and age-dependent muscle atrophy, Yatsenko, 2020
Phenotypic Spectrum of a-Dystroglycanopathies Associated With the c.919T>A Variant in the FKRP Gene in Humans and Mice, Brown, 2020
Development of A2G80 peptide-gene complex for target delivery to muscle cells, Nirasawa, 2020
Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy, Villarreal-mMolina, 2020
Minimal Consequences of CMAH and DBA/2J Background on a FKRP Deficient Model, Vaubourg, 2020
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related, Libell, 2020
A molecular overview of the primary dystroglycanopathies, 2019
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission, Nicolau, 2020
Further evidence for POMK as candidate gene for WWS with meningoencephalocele, Paul, 2020
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes, Mohamadian, 2020
Mitochondrial dysfunction in skeletal muscle of fukutin deficient mice is resistant to exercise- and AICAR-induced reduce, Southern, 2020
Motor outcome measures in patients with FKRP mutations, longitudinal follow-up, Gedlinske, 2020
Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy, Shegetumi, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9, Murphy, 2020
New MRI Finding in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies, Hirasawa-Inoue, 2020
Reporting One Very Rare Pathogenic Variation c.1106G>A in POMT2 Gene, Mahjoub, 2020
Congenital Hearing Impairment Associated With Peripheral Cochlear Nerve Dysmyelination in Glycosylation-Deficient Muscular Dystrophy, Morioka, 2020
Human Embryos Bodies as a 3D Tissue Model of the Extracellular Matrix and a-Dystroglycanopathies, Nickolls, 2020
Longitudinal Functional and Imaging Outcome Measures in FKRP Limb-Girdle Muscular Dystrophy, Leung, 2020
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants, Okazaki, 2020
Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I, Azzag, 2020
FAM3B/PANDER-Like Carbohydrate-Biinding Domain in a Glycosyltransferase, POMGNT1, Manya, 2020
Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy, Kuwabara, 2020
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dytroglcycanopathy cohort (FKRP-predominant), Gonzalez-Perez, 2020
A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy, Saylam, 2020
Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy, Kuwabara, 2020
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene, Svahn, 2019
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement, Fu, 2019
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB), Arvio, 2019
Exogenous expression of the glycosyltransferase LARGE1 retores a-dystroglcan matriglycan and laminin binding in rhabdomyosarcoma, Beltran, 2019
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients, Song, 2019
Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure, Ujihara, 2019
biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for a-Dystroglycanopathies, Gumlaw, 2019
NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy, Bailey, 2019
ISPD Overexpression Enhances Ribitol-Induced Glycosylation of a-Dystroglycan in Dystrophic FKRP Mutant Mice, Cataldi, 2019
Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy, Yamaguchi, 2019
Soluble Heparin Binding Epidermal Grow Factor-Like Growth Factor Is a Regulator of GALGT2 Expression and GALGT2 Dependent Muscle Neuromuscular Phenotypes, Cramer, 2019
Muscular, Ocular and Brain Involvement Associated with a DeNovo 11q13.2q14.1 Duplication: Contribution to the DifferentialDiagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy, Villar-Quiles-Rocio, 2019
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familia Dandy-Walker formation, Traversa, 2019
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related in the dystrophin-glyocoprotein complex, 2019
Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation, Arora, 2019
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of a-dystroglycan, Kim, 2019
Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement Gene Replacement Therapy, Vannoy, 2019
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants, Henriques, 2019
Demembranated Skeletal and Cardiac Fibers Produce Less Force with Altered Cross-Bridge Kinetics in a Mouse Model for Limb-Girdle Muscular Dystrophy 2i, Fenwick, 2019
Advances in imaging of brain abnormalities in neuromuscular disease, Angelini, 2019
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G, Lee, 2019
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy, Ishigaki, 2019
Whole exam sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset of muscular dystrophy dystroglycanopathy, Dai, 2018
Limb girdle muscular dystrophy due to mutations in POMT2, Oestergaard, 2018
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy, Sarkozy, 2018
Walker-Warburg syndrome, Suthar, 2018
Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 2018
The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy, Nickolls, 2018
Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice, Vannoy, 2018
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathes, Serafini, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study, Astrea, 2018
Clinical features and FKRP mutations of congenital muscular dystrophy 1C, Hong, 2018
National registry of patients with Fukuyama congenital muscular dystrophy in Japan, Ishigaki, 2018
Ribitol restores functionally glycosylated a-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice, Cataldi, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness, Johnson, 2018
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report, Fecarotta
Recent advancements in understanding mammalian Omannosylation, Sheikh, 2018
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy, Zaum, 2018
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene, Xie, 2018
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pai, Strang-Karlsson, 2018
Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy, Chen, 2018
Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy, Rubio-Fernández, 2018
CDP-glycerol inhibits the synthesis of the functional O-mannosyl glycan of α-dystroglycan, Imae, 2018
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy, Larson, 2018
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice, Tucker, 2018
Uniparental disomy unveils a novel recessive mutation in POMT2, Brun, 2018
Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo-mouse model of FKRP-deficient muscular dystrophy, Yu, 2018
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss, Al Dhaibani, 2018
Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein, Bouchet-Seraphin, 2018
Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage, Sudo, 2018
Congenital muscular dystrophy-dystroglycanopathy type A, featuring bilateral retinal dysplasia and vertical angle kappa, Peiris, 2018
Cell endogenous activities of fukutin and FKRP coexist with TMEM5, Nishirara, 2018
Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy, Wu, 2018
Untangling the Complexity of Limb-girdle Muscular Dystrophies, Liewluck, 2018
Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes and muscles, Kask, 2018
Ribitol-phosphate-a newly identified post translational glycosylation unit in mammals: structure, modification enzymes, and relationship to human disease, Kanagawa, 2018
Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes, Haro, 2018
Distinct expression of functionally glycoslated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice, Blaeser, 2018
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome, Luo, 2017
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis, Magri, 2017
Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy, Kanagawa, 2017
Recent advancements in understanding mammalian 0-mannosylation, Sheikh, 2017
A Population-Based Study on Congenital Disorders of Protein N- and Combine with O-Glycosylation Experience in Clinical and Genetic Diagnosis, Perez-Cerda, 2017
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy, Yoshioka, 2017
Mutations in INPP5K Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment, Wiessner, 2017
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients, Wang, 2017
Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene, Vannoy, 2017
Adeno-Associated Virus-Mediated Mini-Agrin Delivery is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I, Vannoy, 2017
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy", Van den Bergh, 2017
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy, Van den Bergh, 2017
Spinal correction in patients with Fukuyama congenital muscular dystrophy, Saito, 2017
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset, Smogavec, 2017
A dystroglycan mutation (p.Cys667Phe) associated to Muscle-Eye-Brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein, Signorino, 2017
Recent advancements in understanding mammalian O-mannosylation, Sheikh, 2017
Mutations in GMPPB Presenting with Pseudometabolic Myopathy, Panicucci, 2017
Evaluation of the effect of a flexed Neo cassette within the dystroglycan (Daq1) gene, Sciandra, 2017
Congenital Muscular Dystrophies and Myopathies: An Overview and Update, Schorling, 2017
aDystroglycan hypoglycosylation affects cell migration by influencing B-dystroglycan membrane clustering and filopodia length: a multiscale confocal microscopy analysis, Palmieri, 2017
Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases, Navarro-Cobos, 2017
3D structural analysis of protein O-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy, Nagae, 2017
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature, Nathan, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy dystroglycanopathies, Maroofian, 2017
Sexually Dimorphic Skeletal Muscle and Cardiac Dysfunction in a Mouse Model of Limb Girdle Muscular Dystrophy 2I, Maricelli, 2017
Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan, Manya, 2017
Comprehensive target capture/next generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan, Liang, 2017
Mammalian O-mannosylation of Cadherins and Plexins is Independent of Protein O-mannosyltransferase 1 and 2, Larsen, 2017
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan, Kobayashi, 2017
What is new in CDG?, Jaeken, 2017
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1, Hu, 2017
Spinal fusion in a patient with Fukuyama congenital muscular dystrophy, Hino, 2017
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing, Fu, 2017
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-Related Protein and rescues disease phenotype in murine model of Limb-Girdle Muscular Dystrophy Type 2I, Frattini, 2017
Structural flexibility of human a-dystroglycan, Covaceuszach, 2017
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations, Balcin, 2017
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated a-dystroglycan levels in patients homozygous for common FKRP mutation, Alhamidi, 2017
Cell endogenous activities of fukutin and FKRP coexist with TMEM5, Nishihara, 2016
Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy, Wu, 2018
ISPD produces CDPribitol used by FKTN and FKRP to transfer ribitol phosphate onto αdystroglycan, Gerin, 2016
Prenatal†muscle†development†in†a†mouse†model†for†the†secondary dystroglycanopathies, Kim, 2016
Central†Nervous†Involvement†in†Patients†with†Fukuyama†Congenital Muscular†Dystrophy, Ishigaki, 2016
Congenital muscular dystrophy 1D causes matrix metalloproteinase activation and blood-brain barrier impairment, Schactae, 2016
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss, Servian-Morilla, 2016
Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i, Maricelli, 2016
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome, Tanaka, 2016
B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I, Thomas, 2016
Evidence of early defects in Cajal Retzius cell localisation during brain development in a mouse model of dystroglycanopathy, Booler, 2016
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy, Sato, 2016
Structure of protein O-mannose kinase reveals a unique active site architecture, Zhu, 2016
A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy, Mudau, 2016
Direct mapping of additional modifications on phosphorylated O-glycans of α- dystroglycan by mass spectrometry analysis in conjunction with knocking out of causative genes for dystroglycanopathy, Yagi, 2016
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation, Yang, 2016
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan, Marchese, 2016
The muscular dystrophy gene TMEM5 encodes a ribitol β1-4 Xylosyltransferase required for the functional glycosylation of dystroglycan, Manya, 2016
Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis, Izquierdo-Lahuerta, 2016
Protein O-linked mannose β-1,4-N-acetylglucosaminyltransferase 2 (POMGNT2) is a gatekeeper enzyme for functional glycosylation of α-dystroglycan, Halmo, 2016
Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice, Blaeser, 2016
In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE, Bhattachanya, 2016
Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy, Astrea, 2016
Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy, Booler, 2016
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation, 2016
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T), Oestergaard, 2016
B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I, Thomas, 2016
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I, Brun, 2016
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy, Kanagawa, 2016
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation, Heywood, 2016
Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy, Foltz 2016
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan, Marchese, 2016
Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice, Foltz, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects, Beck, 2016
Prenatal muscle development in a mouse model for the secondary dystroglycanopathies, Kim, 2016
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement, Astrea, 2016
Respiratory management of patients with Fukuyama congenital muscular dystrophy, Sato, 2016
Rhabdomyolysis featuring muscular dystrophies, Lahoria, 2016
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice, Whitmore, 2016
Structure of the polyisoprenyl-phosphate lycosyltransferase GtrB and insights into the mechanism of catalysis, Ardiccioni, 2015
POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy, Endo, 2015
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement, Ceyhan-Birsoy, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies, Belaya, 2015
Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy, Ishigaki, 2015
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto a-dystroglycan, Gerin, 2015
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation, Jenson, 2015

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