MYOCAPTURE

Myopathies are a genetically highly heterogeneous group of diseases with nearly half of affected patients lacking a genetic diagnosis, indicating the presence of additional genes. We aim to identify novel genes mutated in myopathies by sequencing the exome of 1000 individuals from families with different forms of myopathies. Patients have been characterized at the clinical and histological levels in details and materials stored in the partner reference centers for neuromuscular diseases and DNA banks. The 7 partners will bring their complementary expertise in patient characterization, data analysis and functional myology to validate the disease-causing variations. This collaborative project aims to valorize the unique French Myology expertise and identify the remaining myopathy genes.

Publications :

• O’Grady GL. et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet. 2016, vol. 99, issu 5
• Bauché S. et al. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. The American Journal of Human Genetics 2016, vol. 99, issue 3
• Schartner V. et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Acta Neuropathol. 2016, vol. 23
• Mercier S. et al. Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. Neurology 2017, vol. 88, issue 4
• Neto OA. et al. Nonlethal CHRNA1-related congenital Myasthenic Syndrome with a homozygous null mutation. Canadian Journal of Neurological Sciences, 2017, vol. 44, issue 1
• Bohm J. et al. ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy. Human Mutation 2017, vol. 38, issue 4
• Biancalana V. et al. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta Neuropathol. 2017,  vol.134, issue 6
• Neto OA. et al. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscul Disord. 2017, vol.27, issue 11
• Echaniz-Laguna A. et al. HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. Acta Neuropathol. 2017 vol.134, issue1
• Lornage X. et al. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol. 2017 vol. 81, issue 3
•  Meyer A. et al. IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis. Acta Neuropathologica 2017, vol. 134, issue 4
• Böhm J et al. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures Journal of Medical Genetics 2018, vol. 56, issue 9
• Pinto MM. et al. Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3 ‐related type 1 pontocerebellar hypoplasia. Muscle & Nerve 2018
• Lornage X et al. Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei Journal of Neuromuscular Diseases 2018, vol. 5, issue 2
• Ávila-Polo R et al. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. J.of Neuropath.& Exp Neurology 2018, vol.77, issue 12
• Dotti M-T. et al. Discordant manifestations in Italian brothers with GNE myopathy. Journal of the Neurological Sciences 2018, vol. 386
• Lornage X. et al. ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) Acta Neuropathologica 2019, vol. 137, issue 3
• Berardo A. et al. HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes. Journal of Neurology 2019, vol. 266, issue 10
• Lornage X. et al. Clinical, histological, and genetic characterization of PYROXD1-related myopathy. Acta Neuropathologica Communications 2019, vol. 7, issue 1
• Morin G. et al. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. Human Mutation 2019, vol. 41, issue 1
• Lornage X. et al. Asymmetric muscle weakness due to ACTA1 mosaic mutations. Neurology 2020, vol. 95, issue 24
• Reghan Foley A. et al. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Annals of Neurology 2020, vol. 88, issue 2
• Lornage X. et al. Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy. Neurogenetics 2021, vol. 22, issue 1