Retour sur la conférence internationale de la World Muscle Society (WMS 2022) (11 au 15 octobre 2022 à Halifax (Canada)).

Plusieurs interventions et posters étaient consacrés à la DMC LAMA2.
Vous pouvez retrouver les résumés dans le supplément du Journal Neuromuscualr Disorders publié à cette occasion (Octobre 2022) : ICI.

*I.09 Induced pluripotent stem cells for modeling neuromuscular disorders: development of disease-specific assays, live cells functional testing and drug design, M. Delourme, C. Laberthonnière, S. Testa, L. Caron, F. Magdinier

*FP.38 Linker protein-mediated gene therapy ameliorates muscle and nerve pathology in mouse models for LAMA2-related congenital muscular dystrophy, J. Reinhard, S. Lin, M. Ruegg

*FP.39 An international retrospective early natural history study of LAMA2-related dystrophies, R. Orbach, J. Park, …, G. Dziewczapolski, C. Bönnemann, A. Foley

*FP.40 A cross-sectional study on LAMA2-related muscular dystrophy and SELENON-related myopathy, the first results of the LAST STRONG Study, K. Bouman, , …J. Groothuis, N. Voermans

P.184 Defining the pathological natural history of LAMA2 muscular dystrophy. A. Hopp, K. Jones, …., M. Lawlor

P.185 Evaluation of brain microstructure in LAMA2 related muscular dystrophy by NODDI; A pilot study, G. Oz Tuncer, B. Genc, …, A. Aksoy

*P.186 Evaluating the feasibility of functional outcomes and biomarkers in young patients with laminin alpha2-related dystrophies performed in clinic or remote. L. Alfano, M. Jain, A. Foley, ..., C. Bönnemann, A. Connolly

*VP.75 Jab1 deletion in muscle lineage causes a muscular dystrophy that resembles LAMA2 disease. E. Porrello, M. Molina, M. Lorenzetti, S. Previtali

VP.76 Natural history of a novel mouse model for LAMA2-related congenital muscular dystrophy. D. Tan, Q. Shen, …, H. Xiong

VP.77 Muscle transcriptomic study of a novel LAMA2-related congenital muscular dystrophy mouse model. D. Tan, H. Zhang, H. Xiong

VP.78 Clinical and genetic study of LAMA2-related muscular dystrophy patients with seizures. X. Huang, H. Yang,… H. Xiong

VP.79 Challenges in genetic diagnosis of LAMA2-MD - when the pieces do not fit. A. Goncalves, C. Garrido, E. Vieira,…, R. Santos

*VP.81 In vivo modulation of novel genetic modifiers for LAMA2-RD. V. Pini, B. Weisburd, M. Merteroglu, ..., R. White, E. Busch-Nentwich, F. Muntoni

(avec * : les équipes avec qui nous collaborons dans le cadre national ou international)

Lors de cette conférence, deux jeunes scientifiques travaillant sur la DMC LAMA2 ont été récompensées par le jury : Prix du jeune Myologiste de l’année (prix du Président) : Svetlana Gorokhova qui travaille à Marseille Medical Genetics (MMG) et avec qui nous collaborons étroitement. Prix du meilleur Poster scientifique : Judith Reinhard qui travaille au sein de l’entreprise SEAL avec qui nous collabrons dans le cadre de nos relations internationales, qui développe un projet thérapeutique pour la DMC LAMA2. Félicitations à ces deux brillantes scientifiques et hâte de voir plus avant vos résultats!

Principales publications scientifiques : (mis à jour régulièrement)

2022 :

• Estimating the prevalence of LAMA2 congenital muscular dystrophy using population genetic databases

• Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

• Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

• Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation

• Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN-linker protein

• Diffuse Anaplastic Wilms Tumor in a Child With LAMA2-related Muscular Dystrophy

• Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN linker protein

• LAMA2-related muscular dystrophy mimicking multiple sclerosis

• A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review

• Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis

• Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior

• Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy

• The jam session between musle stem cells and the extracellular matrix in the tisue microenvironment, M. Loreti, A. Sacco, 2022, Feb.

2021 :

• Editorial: Current Insights Into LAMA2 Disease, SC Previtali, RD Cohn and MA Ruegg, 2021, Nov.

• A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy, P.A. Chausova, 2021, Oct.

• Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy, Sarah J Smith, 2021, Sept.

• Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A, Afshin Khorrami, 2021, Sept.

• Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort, S. Quijano-Roy, 2021, Sept.

• Muscle Magnetic Resonance Imaging in Patients with LAMA2-Related Muscular Dystrophy, Dan Dan Tan, 2021, Sept.

• CONGENITAL MUSCULAR DYSTROPHIES, EP.70 Exploring the role of genetic modifiers in a mild LAMA2-RD case associated with a LAMA2 loss-of-function mutation, V. Pini, 2021, Oct.

• CONGENITAL MUSCULAR DYSTROPHIES, EP.69 LAST STRONG: LAMA2 and SELENON to study trial readiness, outcome measures and natural history, K. Bouman, 2021, Oct.

• CONGENITAL MUSCULAR DYSTROPHIES, EP.68 Therapeutic effect of linker protein-mediated gene therapy in a mouse model for LAMA2-related muscular dystrophy, J. Reinhard, 2021, Oct.

• Derivation of human pluripotent stem cell line via CRISPR/Cas9 mediated deletion of exon 3 LAMA2 gene (DMBi001-A-1), Sarka Jelinkova, 2021, Sept.

• Laminin Polymerization and Inherited Disease: Lessons From Genetics, Liam Shaw & Conor J. Sugden, 2021, Aug.

• Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study, Karlijn Bouman, 2021, Aug.

• Merosin deficient congenital muscular dystrophy type 1A : An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands, Hubert J. M. Smeets, 2021, Jul.

• Congenital muscular dystrophies : what is new ? A. Zambon & F. Muntoni, 2021, Jul.

• Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature, Andrea Salvati, Eleonora Bonaventura, Gianluca Sesso, 2021, Jul.

• Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort, Dandan Tan, 2021, Jul.

• A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A, Sabine Specht, 2021, Ap.

• A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient - a case report, Jorge Pelicano Paulos, 2021, Ap.

• Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a moroccan patient with congenital muscular dystrophy : a case report, Youssef El Kadiri, 2021, Ap.

• Novel homozygous pathogenic mutations of LAMA2 gene in patients with Congenital Muscular Dystrophy, 2021, Ap 4

• Micro-laminin gene therapy can function as an inhibitor of muscle disease in the dyW Mouse model of MDC1A, Packer & Martin, 2021, feb 8

• Rimmed vacuoles in late-onset LAMA2-related limbgirdle muscular dystrophy, Cho, 2021, Feb 25

• The cardiac features of patients diagnosed with LAMA2-related muscular dystrophy; a scoping review, K. Bouman & M. Gubbels, feb

2020 :

• Development of A2G80 pepide-gene complex for targeted delivery to muscle cells, Nirasawa, 2020, Jan 10

• LAMA2-related muscular dystrophy : Natural history of a large pediatric cohort, Zambon, 2020

• Structural Repair Strategies for LAMA2 MD using Linker Proteins, Ruegg, 2020, Sept.

• Novel mutation identification and copy number variant detection via exam sequencing in congenital muscular dystrophy, Cauley, 2020, Sept. 16

• Limb-girdle muscular dystrophy due to LAMA2 gene mutations : new mutations expand the clinical spectrum of a still challenging diagnosis, Magri, 2020, June

• Cobblestone malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A), Jayakody, 2020, Aug. 22.

• Brain dysfunction in LAMA2-Related Congenital Muscular Dystrophy : lessons from human case reports and mouse models, 2020, July

• Retrospective Natural History Study of LAMA2 in Infants and Toddlers
  

• LAMA2-Related Dystrophies: clinical, phenotypes, disease biomarkers and clinical trial readiness, Sarkozy, 2020, Aug. 5

• Zebrafish model of LAMA2-Related Congenital Muscular Dystrophy (MDC1A), Fabian, 2020

• Clinical features and LAMA2 mutations of patients with Congenial Muscular Dystrophy Type 1A : a case report and literature review, Gus, 2020

• Novel LAMA2 variants identified in a patient with white matter abnormalities, Yamamoto-Shimojima, 2020

• Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD, Barraza-Flores, 2020, June

• Laminin-11 protein therapy after disease onset slows muscle disease in a mouse model of Laminin-a2 Related Congenital Muscular Dystrophy, Barraza-Flores, 2020, May 26

• A Family of Laminin a2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD, Gawlik, 2020

• Clinical and Genomic characteristics of LAMA2 Related Congenital Muscular Dystrophy in a patients' cohort from Qatar. A population specific founder variant, Aleem, 2020

• LAMA2 neuropathies : human findings and pathomechanisms from mouse models, Previtali & Zambon, 2020, April 23

• Epilepsy in LAMA2-related muscular dystrophy : an electro-clinic-radiological characterization, Natera de Benito, 2020

• Antioxidants reduce muscular dytrophy in the d2J/dy2J mouse model of Laminin a2 chain-deficient muscular dystrophy, Harandi, 2020

• Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy : from disease to therapeutics, Barraza-Flores, 2020

• Fibrogenesis in LAMA2-Related Muscular Dystrophy is a central tenet of disease etiology, Accorsi, 2020, Feb

• A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A : case report, Tran, 2020, Feb

• Isolation and characterization of muscle-derived stem cells from dystrophy mouse models, Onofre-Oliveira, 2020

2019 :

• Linker protein repair of LAMA2 dystrophic neuromuscular basement membranes, Yurchenco, 2019

• Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report, Amin, 2019

• Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A, Hall, 2019, Nov 15

• A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene, Kemaladewi, 2019

• Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies, Jain, 2019, Nov.

• Early skeletal muscle pathology and disease progress in the dy3k/dy3k mouse model of congenital muscular dystrophy with laminin a2 chain-deficiency, Gawlik, 2019

• Improvement of motor conduction velocity in hereditary neuropathy of LAMA2-CMD dy2J/dy2J mouse model by glatiramer acetate, Rabie, 2019, Oct.

• Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD, Yanay, 2019

• A mutation-independent approach for muscular dystrophy via upregulaton of a modifier gene, Kemaladewi, 2019, July

• Exam sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI, Saredi, 2019, May

• Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure leukoencephalopathy : a case report and protein analysis, Ding, Wang, Zeng, 2019

2018 :

• Novel LAMA2 gene mutations associated with Merosin-Deficient Congenital Muscular Dystrophy, Hashemi-Gorji, 2018, Nov.

• Exploratory profiling of urine microRNAs in dy2J/dy2J mouse model of LAMA2-CMD: relation to disease progression, Moreira Soarer Oliveira, 2018, Aug. 27

• PTPα is required for laminin-2-induced Fyn–Akt signaling to drive oligodendrocyte differentiation, Ly, 2018, Aug 6

• Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 2018

• RGD inhibition of itgb1 ameliorates laminin-a2 deficient zebrafish fibre pathology, Wood, 2018

• Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study, Fontes-Oliveira, 2018

• Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin a2-related muscular dystrophy, Ge, 2018

• Exon skipping using antisense oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy, Hara, 2018

• LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient, 2018, July

• LAMA2 gene mutation update: Towards a more comprehensive picture of laminin-a2 variometer and its related phenotypes, Oliveira, 2018

• Identification of Skeletal Muscle Satellite Cells by Immunofluorescence with Pax7 and Laminin Antibodies, Feng, 2018, April

• Extracellular matrix-driven congenital muscular dystrophies, Mohassel, 2018, Oct.

• Amelioration of muscle and nerve pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin, Qiao, 2018, June

• Natural disease history of the dy2J mouse model of laminin a2 (merosin)-deficient congenital muscular dystrophy, Pasteuning-Vuhman, 2018, May

• Muscle MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018, May

• Increased polyamines as protective disease modifiers in Congenital Muscular Dystrophy, Kemaladewi, 2018, June

• Novel LAMA2 gene mutations associated with Merosin-Deficient Congenital Muscular Dystrophy, Hashemi-Gorji, 2018, Nov.

• Laminin a1 reduces muscular dystrophy in dy2J mice, Gawlik, 2018, Sept.

2017 :

• Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice, Reinhard, 2017

• Congenital Muscular Dystrophies and Myopathies: An Overview and Update, Schorling, 2017

• Child Neurology∫ LAMA2 muscular dystrophy without contractures, Dean, 2017, May

• Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two year analysis, Nichols, 2017

• Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin a2-related dystrophy, Meilleur, 2017

2016 :

• Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy, Bendixen, 2016

• The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood, Oliveira, 2016, Oct.

2015 :

• LAMA2-related myopathy: frequency among congenital and limb-girdle muscular dystrophies, Lokken, 2015

• Laminin-a2 Chain-Deficient Congenital Muscular Dystrophy- Pathophysiology and Development of Treatment, Durbeej, 2015

2014 :

• Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies, Meilleur, 2014

• Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients, Oliveira, 2014

2010 :

• Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations, Geranmayeh, 2010

2008 :

• A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination, Bruce L. Patton, 2008

2004 :

• EMG and nerve conduction studies in children with congenital muscular dystrophy, S. Quijano-Roy, Jan. 2004