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Limb girdle muscular dystrophy

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https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#1
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28904466/detection-of-dysferlin-gene-pathogenic-variants-in-the-indian-population-in-patients-predicted-to-have-a-dysferlinopathy-using-a-blood-based-monocyte-assay-and-clinical-algorithm-a-model-for-accurate-and-cost-effective-diagnosis
#2
Rashna Sam Dastur, Pradnya Satish Gaitonde, Munira Kachwala, Babi R R Nallamilli, Arunkanth Ankala, Satish V Khadilkar, Nalini Atchayaram, N Gayathri, A K Meena, Laura Rufibach, Sarah Shira, Madhuri Hegde
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is the most common adult-onset class of muscular dystrophies in India, but a majority of suspected LGMDs in India remain unclassified to the genetic subtype level. The next-generation sequencing (NGS)-based approaches have allowed molecular characterization and subtype diagnosis in a majority of these patients in India. MATERIALS AND METHODS: (I) To select probable dysferlinopathy (LGMD2B) cases from other LGMD subtypes using two screening methods (i) to determine the status of dysferlin protein expression in blood (peripheral blood mononuclear cell) by monocyte assay (ii) using a predictive algorithm called automated LGMD diagnostic assistant (ALDA) to obtain possible LGMD subtypes based on clinical symptoms...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28889091/mri-in-sarcoglycanopathies-a-large-international-cohort-study
#3
Giorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, Giacomo Brisca, Claudio Semplicini, Adele D'Amico, Fabiana Fattori, Anna Pichiecchio, Angela Berardinelli, Lorenzo Maggi, Elio Maccagnano, Nicoline Løkken, Chiara Marini-Bettolo, Francina Munell, Angel Sanchez, Nahla Alshaikh, Nicol C Voermans, Jahannaz Dastgir, Dmitry Vlodavets, Jana Haberlová, Gianmichele Magnano, Maggie C Walter, Susana Quijano-Roy, Robert-Yves Carlier, Baziel G M van Engelen, John Vissing, Volker Straub, Carsten G Bönnemann, Eugenio Mercuri, Francesco Muntoni, Elena Pegoraro, Enrico Bertini, Bjarne Udd, Enzo Ricci, Claudio Bruno
OBJECTIVES: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. METHODS: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28883879/limb-girdle-muscular-dystrophy-type-2e-due-to-a-novel-large-deletion-in-sgcb-gene
#4
Soudeh Ghafouri-Fard, Feyzollah Hashemi-Gorji, Majid Fardaei, Mohammad Miryounesi
Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E. Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28881388/autosomal-dominant-calpainopathy-due-to-heterozygous-capn3-c-643_663del21
#5
Jennifer M Martinez-Thompson, Zhiyv Niu, Jennifer A Tracy, Steven A Moore, Andrea Swenson, Eric D Wieben, Margherita Milone
INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe three families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#6
REVIEW
Shri Ram
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. A quantitative literature analysis was carried out on muscular dystrophy from 1991 to 2015 for assessing the global research trends...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28877744/exome-sequences-versus-sequential-gene-testing-in-the-uk-highly-specialised-service-for-limb-girdle-muscular-dystrophy
#7
Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub
BACKGROUND: Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs only, limiting the diagnostic rate using phenotype driven genetic testing. Next generation sequencing provides an opportunity to obtain molecular diagnoses for undiagnosed patients, as well as identifying novel genetic causes of muscle diseases...
September 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28860175/skeletal-muscle-contractile-properties-in-a-novel-murine-model-for-limb-girdle-muscular-dystrophy-2i
#8
Jordan D Rehwaldt, Buel D Rodgers, David C Lin
Limb-girdle muscular dystrophy (LGMD) 2i results from mutations in fukutin-related protein and aberrant α-dystroglycan glycosylation. Although this significantly compromises muscle function and ambulation, the comprehensive characteristics of contractile dysfunction are unknown. We therefore quantified the in situ contractile properties of the medial gastrocnemius in young adult P448L mice, an affected muscle and novel model of LGMD2i, respectively. Maximal twitch force, tetanic force and power normalized to physiological cross-sectional area were significantly smaller in P448L mice, compared to sex-matched wild-type mice...
August 31, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28827486/siblings-with-mutations-in-trappc11-presenting-with-limb-girdle-muscular-dystrophy-2s
#9
Dominic B Fee, Matthew Harmelink, Priya Monrad, Erika Pyzik
Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems. Siblings with an uncharacterized LGMD were assessed; whole-exome screening revealed compound heterozygous mutations in the TRAPPC11 gene. Their presentation helps confirm the emerging phenotype for LGMD2S...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28813086/translation-and-validation-of-the-life-satisfaction-index-for-adolescents-scale-with-neuromuscular-disorders-lsi-a-brazil
#10
Valdecir Antonio Simon, Edmar Zanoteli, Margarete Andreozzi Vaz Pereira Simon, Maria Bernadete Dutra de Resende, Umbertina Conti Reed
Objective: To validate the Life Satisfaction Index for Adolescents (LSI-A) scale, parent version and patient version, for Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and limb-girdle muscular dystrophy (LGMD). Methods: The parent version of the instrument was divided into Groups A, B, C and D; and the patient version, divided into B, C and D. For the statistical calculation, the following tests were used: Cronbach's α, ICC, Pearson and the ROC Curve...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28803818/a-homozygous-dpm3-mutation-in-a-patient-with-alpha-dystroglycan-related-limb-girdle-muscular-dystrophy
#11
P Y K Van den Bergh, Y Sznajer, V Van Parys, W van Tol, R A Wevers, D J Lefeber, L Xu, M Lek, D G MacArthur, K Johnson, L Phillips, A Töpf, V Straub
Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous c.131T > G (p.Leu44Pro) substitution in DPM3, encoding dolichol-P-mannose (DPM) synthase subunit 3, leading to a 50% reduction of enzymatic activity...
July 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28797108/natural-disease-history-of-mouse-models-for-limb-girdle-muscular-dystrophy-types-2d-and-2f
#12
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration. The cause of the disease has been well characterized and a number of animal models are available for pre-clinical studies to test potential therapeutic interventions. To facilitate transition from drug discovery to clinical trials, standardized procedures and natural disease history data were collected for these mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28795552/-progressive-muscular-weakness-of-lower-limbs-revealing-a-limb-girdle-muscular-dystrophy
#13
G Saintmard, G Brands, F-G Debray, M Lognard
We report the case of a 26-year-old man who initiated a limb girdle muscular dystrophy (lgmd2b). It is a rare and slowly progressive autosomal recessive dysferlinopathy occurring in young adults and for which no treatment is currently known.
July 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28794355/characteristic-posterior-dominant-lower-limb-muscle-involvement-in-limb-girdle-muscular-dystrophy-due-to-a-dnajb6-phe93leu-mutation
#14
Yuta Kojima, Yu-Ichi Noto, Daiki Takewaki, Naoki Tokuda, Kensuke Shiga, Ai Hamano, Ikuko Mizuta, Manabu Muranishi, Takashi Kasai, Masanori Nakagawa, Toshiki Mizuno
A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement pattern, the clinical findings and the muscle biopsy results, we made a straightforward diagnosis of limb-girdle muscular dystrophy (LGMD) due to a DNAJB6 Phe93Leu mutation based on a targeted gene analysis...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28750735/treatment-with-recombinant-human-mg53-protein-increases-membrane-integrity-in-a-mouse-model-of-limb-girdle-muscular-dystrophy-2b
#15
Liubov V Gushchina, Sayak Bhattacharya, Kevin E McElhanon, Jin Hyuk Choi, Heather Manring, Eric X Beck, Jenna Alloush, Noah Weisleder
Limb girdle muscular dystrophy type 2B (LGMD2B) and other dysferlinopathies are degenerative muscle diseases that result from mutations in the dysferlin gene and have limited treatment options. The dysferlin protein has been linked to multiple cellular functions including a Ca(2+)-dependent membrane repair process that reseals disruptions in the sarcolemmal membrane. Recombinant human MG53 protein (rhMG53) can increase the membrane repair process in multiple cell types both in vitro and in vivo. Here, we tested whether rhMG53 protein can improve membrane repair in a dysferlin-deficient mouse model of LGMD2B (B6...
July 3, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28716623/a-second-truncation-in-ttn-causes-early-onset-recessive-muscular-dystrophy
#16
Elizabeth Harris, Ana Töpf, Anna Vihola, Anni Evilä, Rita Barresi, Judith Hudson, Peter Hackman, Brian Herron, Daniel MacArthur, Hanns Lochmüller, Kate Bushby, Bjarne Udd, Volker Straub
Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. Heterozygous truncating mutations have also been linked to dilated cardiomyopathy. The phenotypic spectrum of titinopathies is emerging and expanding, as next generation sequencing techniques make this large gene amenable to sequencing. We undertook whole exome sequencing in four individuals with LGMD...
June 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28702169/exome-sequencing-reveals-independent-sgcd-deletions-causing-limb-girdle-muscular-dystrophy-in-boston-terriers
#17
Melissa L Cox, Jacquelyn M Evans, Alexander G Davis, Ling T Guo, Jennifer R Levy, Alison N Starr-Moss, Elina Salmela, Marjo K Hytönen, Hannes Lohi, Kevin P Campbell, Leigh Anne Clark, G Diane Shelton
BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. METHODS: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28697784/exome-sequencing-reveals-independent-sgcd-deletions-causing-limb-girdle-muscular-dystrophy-in-boston-terriers
#18
Melissa L Cox, Jacquelyn M Evans, Alexander G Davis, Ling T Guo, Jennifer R Levy, Alison N Starr-Moss, Elina Salmela, Marjo K Hytönen, Hannes Lohi, Kevin P Campbell, Leigh Anne Clark, G Diane Shelton
BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. METHODS: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog...
July 11, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28690390/integrated-care-of-muscular-dystrophies-in-italy-part-1-pharmacological-treatment-and-rehabilitative-interventions
#19
Luisa Politano, Marianna Scutifero, Melania Patalano, Alessandra Sagliocchi, Antonella Zaccaro, Federica Civati, Erika Brighina, Gianluca Vita, Sonia Messina, Maria Sframeli, Maria Elena Lombardo, Roberta Scalise, Giulia Colia, Maria Catteruccia, Angela Berardinelli, Maria Chiara Motta, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Guja Astrea, Giulia Ricci, Maria Grazia D'Angelo, Giuseppe Vita, Marika Pane, Adele D'Amico, Umberto Balottin, Corrado Angelini, Roberta Battini, Lorenza Magliano
This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Data were collected by the MD-Socio-Demographic and Clinical Schedule (MD-SC-CS) and by the Family Problems Questionnaire (FPQ). The most part of the enrolled patients were in drug treatment. The number of the medications increased in relation to patient's age, disability degree and duration of illness and was higher among patients with Duchenne Muscular Dystrophy (DMD) compared with Becker (BMD) or Limb-Girdle Muscular Dystrophies (LGMD)...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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
#20
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
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