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Ullrich congenital muscular dystrophy

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https://www.readbyqxmd.com/read/30098288/prediction-of-postnatal-developmental-disabilities-using-the-antenatal-fetal-neurodevelopmental-test-kanet-assessment
#1
Toshiyuki Hata, Kenji Kanenishi, Nobuhiro Mori, Mohamed Ahmed Mostafa AboEllail, Uiko Hanaoka, Kosuke Koyano, Ikuko Kato, Takashi Kusaka
Objective To assess the usefulness of the antenatal fetal neurodevelopmental test for the prediction of postnatal developmental disabilities. Methods Fetal behavior was assessed with Kurjak's antenatal neurodevelopmental test (KANET) using four-dimensional ultrasound between 28 and 38 weeks of gestation. A score range of 0-5 was characterized as abnormal, from 6 to 9 was considered borderline, and 10-16 was normal. After birth, follow-up was conducted for at least 2 years in all fetuses. Results There were 337 normal (95...
August 11, 2018: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29999148/-collagen-vi-related-myopathies-when-to-suspect-how-to-identify-the-contribution-of-muscle-magnetic-resonance
#2
REVIEW
Bernardita Suárez, Andrés Lozano-Arango, Diego Araneda, Fanny Cortés, Cecilia Hervias, Giancarlo Calcagno, Ximena Ortega, Claudia Castiglioni
Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases...
June 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29894794/two-novel-col6a3-mutations-disrupt-extracellular-matrix-formation-and-lead-to-myopathy-from-ullrich-congenital-muscular-dystrophy-and-bethlem-myopathy-spectrum
#3
Andrey V Marakhonov, Vyacheslav Yu Tabakov, Nikolay V Zernov, Elena L Dadali, Inna V Sharkova, Mikhail Yu Skoblov
Here we present a case report of collagen VI related myopathy in a patient, 8 y.o. boy, with intermediate phenotype between severe Ullrich congenital muscular dystrophy and milder Bethlem myopathy. Whole exome sequencing revealed two novel single nucleotide variants in COL6A3 gene: paternal p.Glu2402Ter, resulting in premature translation termination codon and degradation of mRNA from this allele probably due to nonsense-mediated decay, and maternal p.Arg1660Cys leading to amino-acid substitution in N2-terminal domain...
September 25, 2018: Gene
https://www.readbyqxmd.com/read/29774307/bethlem-myopathy-in-a-portuguese-patient-case-report
#4
Ana Inês Martins, Cristin Maarque, Jorge Pinto-Basto, Luis Negrão
Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3 ), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29752552/collagen-vi-is-required-for-the-structural-and-functional-integrity-of-the-neuromuscular-junction
#5
Matilde Cescon, Ilaria Gregorio, Nane Eiber, Doriana Borgia, Aurora Fusto, Patrizia Sabatelli, Michele Scorzeto, Aram Megighian, Elena Pegoraro, Said Hashemolhosseini, Paolo Bonaldo
The synaptic cleft of the neuromuscular junction (NMJ) consists of a highly specialized extracellular matrix (ECM) involved in synapse maturation, in the juxtaposition of pre- to post-synaptic areas, and in ensuring proper synaptic transmission. Key components of synaptic ECM, such as collagen IV, perlecan and biglycan, are binding partners of one of the most abundant ECM protein of skeletal muscle, collagen VI (ColVI), previously never linked to NMJ. Here, we demonstrate that ColVI is itself a component of this specialized ECM and that it is required for the structural and functional integrity of NMJs...
May 11, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29419890/genetic-and-clinical-findings-in-a-chinese-cohort-of-patients-with-collagen-vi-related-myopathies
#6
Y Fan, A Liu, C Wei, H Yang, X Chang, S Wang, Y Yuan, C Bonnemann, Q Wu, X Wu, H Xiong
Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyzed. COL6A1, COL6A2 and COL6A3 exons were analyzed by direct sequencing or next generation sequencing (NGS). Sixty patients were characterized by delayed motor milestones, muscle weakness, skin and joint changes with 40 UCMD and 20 BM...
June 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29406609/collagen-vi-related-myopathy-expanding-the-clinical-and-genetic-spectrum
#7
Soo Yeon Kim, Woo Joong Kim, Hyuna Kim, Sun Ah Choi, Jin Sook Lee, Anna Cho, Se Song Jang, Byung Chan Lim, Ki Joong Kim, Jong-Il Kim, Si Houn Hahn, Jong-Hee Chae
INTRODUCTION: We aimed to analyze the clinical and genetic characteristics of collagen VI-related myopathy. METHODS: We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital muscular dystrophy cohort. RESULTS: Among 24 patients with mutations in collagen VI coding genes, 13 (54.2%) were categorized as Ullrich type, and 11 (45.8%) as non-Ullrich type. Congenital orthopedic problems were similarly observed in both types, yet multiple joint contractures were found only in the Ullrich type...
September 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29277723/collagen-vi-disorders-insights-on-form-and-function-in-the-extracellular-matrix-and-beyond
#8
REVIEW
Shireen R Lamandé, John F Bateman
Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich congenital muscular dystrophy. Mutations can be either dominant or recessive and the resulting clinical severity is influenced by the way mutations impact the complex collagen VI assembly process. Most mutations are found towards the N-terminus of the triple helical collagenous domain and compromise extracellular microfibril assembly. Outside the triple helix collagen VI is highly polymorphic and discriminating mutations from rare benign changes remains a major diagnostic challenge...
December 22, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29244830/transcriptome-profiling-identifies-regulators-of-pathogenesis-in-collagen-vi-related-muscular-dystrophy
#9
Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
OBJECTIVES: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of the mutation. DN mutations allow incorporation of abnormal chains into secreted tetramers and are the most commonly identified mutation type in COL6-RD...
2017: PloS One
https://www.readbyqxmd.com/read/29129153/skin-biopsy-for-diagnosis-of-ullrich-congenital-muscular-dystrophy-an-observational-study
#10
Biswaroop Chakrabarty, M C Sharma, Sheffali Gulati, Chitra Sarkar
The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28984114/a-novel-de-novo-col6a1-mutation-emphasizes-the-role-of-intron-14-donor-splice-site-defects-as-a-cause-of-moderate-progressive-form-of-colvi-myopathy-a-case-report-and-review-of-the-genotype-phenotype-correlation
#11
REVIEW
Agnieszka A Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M Kochański, Rafał Płoski
Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myopathy, an intermediate form and Ullrich congenital muscular dystrophy, which is the most severe. Here we report a novel de novo c.1056+3A>C substitution in intron 14 of the COL6A1 gene encoding alpha-chains of collagen VI in a 13-year-old girl suffering from collagen VI (ColVI) myopathy...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28918041/gapmer-antisense-oligonucleotides-suppress-the-mutant-allele-of-col6a3-and-restore-functional-protein-in-ullrich-muscular-dystrophy
#12
Elena Marrosu, Pierpaolo Ala, Francesco Muntoni, Haiyan Zhou
Dominant-negative mutations in the genes that encode the three major α chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients. Gapmer antisense oligonucleotides (AONs) are usually used for gene silencing by stimulating RNA cleavage through the recruitment of an endogenous endonuclease known as RNase H to cleave the RNA strand of a DNA-RNA duplex. In this study, we exploited the application of the allele-specific silencing approach by gapmer AON as a potential therapy for Collagen-VI-related congenital muscular dystrophy (COL6-CMD)...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28848425/differences-in-adipose-tissue-and-lean-mass-distribution-in-patients-with-collagen-vi-related-myopathies-are-associated-with-disease-severity-and-physical-ability
#13
M A Rodríguez, Luís M Del Rio Barquero, Carlos I Ortez, Cristina Jou, Meritxell Vigo, Julita Medina, Anna Febrer, Marta Ramon-Krauel, Jorge Diaz-Manera, Montse Olive, Laura González-Mera, Andres Nascimento, Cecilia Jimenez-Mallebrera
Mutations in human collagen VI genes cause a spectrum of musculoskeletal conditions in children and adults collectively termed collagen VI-related myopathies (COL6-RM) characterized by a varying degree of muscle weakness and joint contractures and which include Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM). Given that collagen VI is one of the most abundant extracellular matrix proteins in adipose tissue and its emerging role in energy metabolism we hypothesized that collagen VI deficiency might be associated with alterations in adipose tissue distribution and adipokines serum profile...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28831785/clinical-pathologic-and-genetic-features-of-collagen-vi-related-myopathy-in-korea
#14
Jung Hwan Lee, Ha Young Shin, Hyung Jun Park, Se Hoon Kim, Seung Min Kim, Young Chul Choi
BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies, which cover a broad clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Korea. METHODS: We reviewed the clinical, pathologic, and genetic features in 22 patients with collagen VI-related myopathy from 13 families, as confirmed by genetic analysis of collagen VI-related genes...
October 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28688748/congenital-muscular-dystrophies-in-the-uk-population-clinical-and-molecular-spectrum-of-a-large-cohort-diagnosed-over-a-12-year-period
#15
Maria Sframeli, Anna Sarkozy, Marta Bertoli, Guja Astrea, Judith Hudson, Mariacristina Scoto, Rachael Mein, Michael Yau, Rahul Phadke, Lucy Feng, Caroline Sewry, Adeline Ngoh Seow Fen, Cheryl Longman, Gary McCullagh, Volker Straub, Stephanie Robb, Adnan Manzur, Kate Bushby, Francesco Muntoni
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle. Between 2001 and 2013, a genetically confirmed diagnosis of CMD was obtained for 249 unrelated individuals referred to these services...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#16
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28082118/elevated-expression-of-moesin-in-muscular-dystrophies
#17
Mark Pines, Oshrat Levi, Olga Genin, Adi Lavy, Corrado Angelini, Valérie Allamand, Orna Halevy
Fibrosis is the main complication of muscular dystrophies. We identified moesin, a member of the ezrin-radixin-moesin family, in dystrophic muscles of mice representing Duchenne and congenital muscular dystrophies (DMD and CMD, respectively) and dysferlinopathy, but not in the wild type. High levels of moesin were also observed in muscle biopsy specimens from DMD, Ullrich CMD, and merosin-deficient CMD patients, all of which present high levels of fibrosis. The myofibroblasts, responsible for extracellular matrix protein synthesis, and the macrophages infiltrating the dystrophic muscles were the source of moesin...
March 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/27784478/-correlation-between-thigh-muscle-magnetic-resonance-imaging-findings-and-clinical-features-of-congenital-muscular-dystrophies-a-preliminary-study
#18
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/27656840/autophagy-activation-in-col6-myopathic-patients-by-a-low-protein-diet-pilot-trial
#19
Silvia Castagnaro, Camilla Pellegrini, Massimo Pellegrini, Martina Chrisam, Patrizia Sabatelli, Silvia Toni, Paolo Grumati, Claudio Ripamonti, Loredana Pratelli, Nadir M Maraldi, Daniela Cocchi, Valeria Righi, Cesare Faldini, Marco Sandri, Paolo Bonaldo, Luciano Merlini
A pilot clinical trial based on nutritional modulation was designed to assess the efficacy of a one-year low-protein diet in activating autophagy in skeletal muscle of patients affected by COL6/collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy are rare inherited muscle disorders caused by mutations of COL6 genes and for which no cure is yet available. Studies in col6 null mice revealed that myofiber degeneration involves autophagy defects and that forced activation of autophagy results in the amelioration of muscle pathology...
December 2016: Autophagy
https://www.readbyqxmd.com/read/27453230/-target-and-sandwich-signs-in-thigh-muscles-have-high-diagnostic-values-for-collagen-vi-related-myopathies
#20
Jun Fu, Yi-Ming Zheng, Su-Qin Jin, Jun-Fei Yi, Xiu-Juan Liu, He Lyn, Zhao-Xia Wang, Wei Zhang, Jiang-Xi Xiao, Yun Yuan
BACKGROUND: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. METHODS: Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study...
August 5, 2016: Chinese Medical Journal
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