{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:01:22Z","timestamp":1790816482317,"version":"4.1.0"},"reference-count":69,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T00:00:00Z","timestamp":1609286400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ANR Sorbonne-University","award":["ANR-11-IDEX-0004-02"],"award-info":[{"award-number":["ANR-11-IDEX-0004-02"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Laminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by skeletal and cardiac involvement, and include autosomal dominant Emery\u2013Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B, and LMNA-related congenital muscular dystrophy (LMNA-CMD). Although the exact pathophysiological mechanisms responsible for LMNA-CMD are not yet understood, severe contracture and muscle atrophy suggest that mutations may impair skeletal muscle growth. Using human muscle stem cells (MuSCs) carrying LMNA-CMD mutations, we observe impaired myogenic fusion with disorganized cadherin\/\u03b2 catenin adhesion complexes. We show that skeletal muscle from Lmna-CMD mice is unable to hypertrophy in response to functional overload, due to defective fusion of activated MuSCs, defective protein synthesis and defective remodeling of the neuromuscular junction. Moreover, stretched myotubes and overloaded muscle fibers with LMNA-CMD mutations display aberrant mechanical regulation of the yes-associated protein (YAP). We also observe defects in MuSC activation and YAP signaling in muscle biopsies from LMNA-CMD patients. These phenotypes are not recapitulated in closely related but less severe EDMD models. In conclusion, combining studies in vitro, in vivo, and patient samples, we find that LMNA-CMD mutations interfere with mechanosignaling pathways in skeletal muscle, implicating A-type lamins in the regulation of skeletal muscle growth.<\/jats:p>","DOI":"10.3390\/ijms22010306","type":"journal-article","created":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T09:35:23Z","timestamp":1609320923000},"page":"306","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1908-8677","authenticated-orcid":false,"given":"Daniel","family":"Owens","sequence":"first","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"},{"name":"Research Institute for Sport and Exercise Science, Liverpool John Moores University, Liverpool L3 3AF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Mess\u00e9ant","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Moog","sequence":"additional","affiliation":[{"name":"Inovarion, 75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Viggars","sequence":"additional","affiliation":[{"name":"Research Institute for Sport and Exercise Science, Liverpool John Moores University, Liverpool L3 3AF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Ferry","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"},{"name":"Universit\u00e9 de Paris, 75006 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamel","family":"Mamchaoui","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"},{"name":"Neuromuscular Morphology Unit, Institute of Myology, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0675-7309","authenticated-orcid":false,"given":"Emmanuelle","family":"Lac\u00e8ne","sequence":"additional","affiliation":[{"name":"Neuromuscular Morphology Unit, Institute of Myology, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma","family":"Rom\u00e9ro","sequence":"additional","affiliation":[{"name":"Neuromuscular Morphology Unit, Institute of Myology, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, 75013 Paris, France"},{"name":"APHP, Reference Center for Neuromuscular Disorders, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Institute of Myology, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3012-451X","authenticated-orcid":false,"given":"Astrid","family":"Brull","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2516-3258","authenticated-orcid":false,"given":"Gis\u00e8le","family":"Bonne","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian","family":"Butler-Browne","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5594-1057","authenticated-orcid":false,"given":"Catherine","family":"Coirault","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne Universit\u00e9, INSERM UMRS_974, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Mierzejewski, B., Archacka, K., Grabowska, I., Florkowska, A., Ciemerych, M.A., and Brzoska, E. 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