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Congenital muscular dystrophy

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https://www.readbyqxmd.com/read/29779596/muscular-dystrophies
#1
REVIEW
John C Carter, Daniel W Sheehan, Andre Prochoroff, David J Birnkrant
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29774307/bethlem-myopathy-in-a-portuguese-patient-case-report
#2
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/29766020/amelioration-of-muscle-and-nerve-pathology-in-lama2-muscular-dystrophy-by-aav9-mini-agrin
#3
Chunping Qiao, Yi Dai, Viktoriya D Nikolova, Quan Jin, Jianbin Li, Bin Xiao, Juan Li, Sheryl S Moy, Xiao Xiao
LAMA2-related muscular dystrophy (LAMA2 MD) is the most common and fatal form of early-onset congenital muscular dystrophies. Due to the large size of the laminin α2 cDNA and heterotrimeric structure of the protein, it is challenging to develop a gene-replacement therapy. Our group has developed a novel adeno-associated viral (AAV) vector carrying the mini-agrin, which is a non-homologous functional substitute for the mutated laminin α2. A significant therapeutic effect in skeletal muscle was observed in our previous study using AAV serotype 1 (AAV1)...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29763467/natural-disease-history-of-the-dy2j-mouse-model-of-laminin-%C3%AE-2-merosin-deficient-congenital-muscular-dystrophy
#4
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
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have been identified for MDC1A, no treatment is yet available. There are many therapeutic approaches in development, but the lack of natural history data of the mouse model and standardized outcome measures makes it difficult to transit these pre-clinical findings to clinical trials...
2018: PloS One
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/29726018/hitherto-unknown-detailed-muscle-anatomy-in-an-8-week-old-embryo
#6
Moritz V Warmbrunn, Bernadette S de Bakker, Jaco Hagoort, Pauline B Alefs-de Bakker, Roelof-Jan Oostra
Congenital muscle diseases, such as myopathies or dystrophies, occur relatively frequently, with estimated incidences of up to 4.7 per 100 000 newborns. To diagnose congenital diseases in the early stages of pregnancy, and to interpret the results of increasingly advanced in utero imaging techniques, a profound knowledge of normal human morphological development of the locomotor system and the nervous system is necessary. Muscular development, however, is an often neglected topic or is only described in a general way in embryology textbooks and papers...
May 3, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29707938/novel-lama2-gene-mutations-associated-with-merosin-deficient-congenital-muscular-dystrophy
#7
Feyzollah Hashemi-Gorji, Vahid Reza Yassaee, Parisa Dashti, Mohammad Miryounesi
Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase, and normal magnetic resonance imaging before the age of six months Methods: Peripheral blood samples were collected from three unrelated patients and their families after obtaining their informed written consents...
April 30, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29700358/premyogenic-progenitors-derived-from-human-pluripotent-stem-cells-expand-in-floating-culture-and-differentiate-into-transplantable-myogenic-progenitors
#8
Fusako Sakai-Takemura, Asako Narita, Satoru Masuda, Toshifumi Wakamatsu, Nobuharu Watanabe, Takashi Nishiyama, Ken'ichiro Nogami, Matthias Blanc, Shin'ichi Takeda, Yuko Miyagoe-Suzuki
Human induced pluripotent stem cells (hiPSCs) are a potential source for cell therapy of Duchenne muscular dystrophy. To reliably obtain skeletal muscle progenitors from hiPSCs, we treated hiPS cells with a Wnt activator, CHIR-99021 and a BMP receptor inhibitor, LDN-193189, and then induced skeletal muscle cells using a previously reported sphere-based culture. This protocol greatly improved sphere formation efficiency and stably induced the differentiation of myogenic cells from hiPS cells generated from both healthy donors and a patient with congenital myasthenic syndrome...
April 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29689733/a-qualitative-approach-to-health-related-quality-of-life-in-congenital-muscular-dystrophy
#9
Kylie M Cornwall, Russell J Butterfield, Antonio Hernandez, Chad Heatwole, Nicholas E Johnson
Congenital muscular dystrophies (CMD) cause progressive muscle weakness resulting in severe motor disabilities. Previous studies focused on the effects of motor disability. Here, we explore other factors affecting health related quality-of-life (HRQOL) in CMD. Qualitative interviews were conducted with participant-parent dyads to identify symptoms having the greatest impact on HRQOL. Symptoms were classified into themes and domains representing physical, mental, social health, and disease specific issues. Social role limitations and specific activity impairment were frequently mentioned...
April 16, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29687899/myotonic-dystrophy-and-developmental-regulation-of-rna-processing
#10
James D Thomas, Ruan Oliveira, Łukasz J Sznajder, Maurice S Swanson
Myotonic dystrophy (DM) is a multisystemic disorder caused by microsatellite expansion mutations in two unrelated genes leading to similar, yet distinct, diseases. DM disease presentation is highly variable and distinguished by differences in age-of-onset and symptom severity. In the most severe form, DM presents with congenital onset and profound developmental defects. At the molecular level, DM pathogenesis is characterized by a toxic RNA gain-of-function mechanism that involves the transcription of noncoding microsatellite expansions...
March 25, 2018: Comprehensive Physiology
https://www.readbyqxmd.com/read/29671051/update-on-muscle-disease
#11
J Witherick, S Brady
In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions...
April 18, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29669293/three-dimensional-human-ipsc-derived-artificial-skeletal-muscles-model-muscular-dystrophies-and-enable-multilineage-tissue-engineering
#12
Sara Martina Maffioletti, Shilpita Sarcar, Alexander B H Henderson, Ingra Mannhardt, Luca Pinton, Louise Anne Moyle, Heather Steele-Stallard, Ornella Cappellari, Kim E Wells, Giulia Ferrari, Jamie S Mitchell, Giulia E Tyzack, Vassilios N Kotiadis, Moustafa Khedr, Martina Ragazzi, Weixin Wang, Michael R Duchen, Rickie Patani, Peter S Zammit, Dominic J Wells, Thomas Eschenhagen, Francesco Saverio Tedesco
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced pluripotent stem cells (iPSCs) from patients with Duchenne, limb-girdle, and congenital muscular dystrophies. 3D skeletal myogenic differentiation of pluripotent cells was induced within hydrogels under tension to provide myofiber alignment. Artificial muscles recapitulated characteristics of human skeletal muscle tissue and could be implanted into immunodeficient mice...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29625576/skeletal-cardiac-and-respiratory-muscle-function-and-histopathology-in-the-p448lneo-mouse-model-of-fkrp-deficient-muscular-dystrophy
#13
Qing Yu, Melissa Morales, Ning Li, Alexander G Fritz, Ren Ruobing, Anthony Blaeser, Ershia Francois, Qi-Long Lu, Kanneboyina Nagaraju, Christopher F Spurney
BACKGROUND: Fukutin-related protein (FKRP) mutations are the most common cause of dystroglycanopathies known to cause both limb girdle and congenital muscular dystrophy. The P448Lneo- mouse model has a knock-in mutation in the FKRP gene and develops skeletal, respiratory, and cardiac muscle disease. METHODS: We studied the natural history of the P448Lneo- mouse model over 9 months and the effects of twice weekly treadmill running. Forelimb and hindlimb grip strength (Columbus Instruments) and overall activity (Omnitech Electronics) assessed skeletal muscle function...
April 6, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29618840/smad6-overexpression-leads-to-accelerated-myogenic-differentiation-of-lmna-mutated-cells
#14
Alexandre Janin, Delphine Bauer, Francesca Ratti, Camille Valla, Anne Bertrand, Emilie Christin, Emilie Chopin, Nathalie Streichenberger, Gisèle Bonne, Vincent Gache, Tatiana Cohen, Alexandre Méjat
LMNA gene encodes lamins A and C, two major components of the nuclear lamina, a network of intermediate filaments underlying the inner nuclear membrane. Most of LMNA mutations are associated with cardiac and/or skeletal muscles defects. Muscle laminopathies include Emery-Dreifuss Muscular Dystrophy, Limb-Girdle Muscular Dystrophy 1B, LMNA-related Congenital Muscular Dystrophy and Dilated Cardiomyopathy with conduction defects. To identify potential alterations in signaling pathways regulating muscle differentiation in LMNA-mutated myoblasts, we used a previously described model of conditionally immortalized murine myoblasts: H-2K cell lines...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29566247/increased-polyamines-as-protective-disease-modifiers-in-congenital-muscular-dystrophy
#15
D U Kemaladewi, J S Benjamin, E Hyatt, E A Ivakine, R D Cohn
Most Mendelian disorders, including neuromuscular disorders, display extensive clinical heterogeneity that cannot be solely explained by primary genetic mutations. This phenotypic variability is largely attributed to the presence of disease modifiers, which can exacerbate or lessen the severity and progression of the disease.LAMA2-deficient Congenital Muscular Dystrophy (LAMA2-CMD) is a fatal degenerative muscle disease resulting from mutations in the LAMA2 gene encoding Laminin-α2. Progressive muscle weakness is predominantly observed in the lower limbs in LAMA2-CMD patients, whereas upper limbs muscles are significantly less affected...
March 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29555514/congenital-muscular-dystrophy-dystroglycanopathy-type-a-featuring-bilateral-retinal-dysplasia-and-vertical-angle-kappa
#16
Timothy J Peiris, Maanasa Indaram, Euna Koo, Janet S Soul, David G Hunter
No abstract text is available yet for this article.
March 16, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29544721/dexmedetomidine-high-flow-nasal-oxygen-and-sugammadex-reversal-of-rocuronium-overcoming-anaesthetic-challenges-in-a-parturient-with-congenital-muscular-dystrophy-presenting-for-caesarean-section
#17
M Creaney, R M Moriarty, M Milner, C Murphy
Congenital muscular dystrophies are characterised by progressive skeletal muscle weakness from birth or early infancy. Maternal respiratory compromise, joint contractures and presence of spinal instrumentation or fusion are some of the anaesthetic challenges that may be encountered in the obstetric setting. The choice of anaesthetic technique for surgical delivery needs to be considered on an individual basis. Multidisciplinary involvement is paramount to optimise peripartum care and outcomes. In this case report, we present the use of dexmedetomidine, humidified high-flow nasal oxygen, rocuronium and sugammadex in the anaesthetic management of a wheelchair-bound, non-invasive bilevel positive airway pressure ventilation-dependent parturient with congenital muscular dystrophy, who was presenting for caesarean section...
May 2018: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29518840/-progress-in-merosin-deficient-congenital-muscular-dystrophy
#18
L Ge, H Xiong
No abstract text is available yet for this article.
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29499949/gene-therapy-via-trans-splicing-for-lmna-related-congenital-muscular-dystrophy
#19
Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson, Arnaud Jollet, Esma Ziat, Bernard Prudhon, Sofia Benkhelifa-Ziyyat, Marc Bitoun, Stéphanie Lorain, Gisèle Bonne, Anne T Bertrand
We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy. This gene therapy strategy leads to reduction of mutated transcript expression for the benefit of corresponding wild-type (WT) transcripts. We developed 5'-RNA pre-trans-splicing molecules containing the first five exons of Lmna and targeting intron 5 of Lmna pre-mRNA. Among nine pre-trans-splicing molecules, differing in the targeted sequence in intron 5 and tested in C2C12 myoblasts, three induced trans-splicing events on endogenous Lmna mRNA and confirmed at protein level...
March 2, 2018: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29498561/developmentally-linked-human-dna-hypermethylation-is-associated-with-down-modulation-repression-and-upregulation-of-transcription
#20
Carl Baribault, Kenneth C Ehrlich, V K Chaithanya Ponnaluri, Sriharsa Pradhan, Michelle Lacey, Melanie Ehrlich
DNA methylation can affect tissue-specific gene transcription in ways that are difficult to discern from studies focused on genome-wide analyses of differentially methylated regions (DMRs). To elucidate the variety of associations between differentiation-related DNA hypermethylation and transcription, we used available epigenomic and transcriptomic profiles from 38 human cell/tissue types to focus on such relationships in 94 genes linked to hypermethylated DMRs in myoblasts (Mb). For 19 of the genes, promoter-region hypermethylation in Mb (and often a few heterologous cell types) was associated with gene repression but, importantly, DNA hypermethylation was absent in many other repressed samples...
April 18, 2018: Epigenetics: Official Journal of the DNA Methylation Society
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