{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:54:39Z","timestamp":1753890879880,"version":"3.41.2"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T00:00:00Z","timestamp":1635465600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue. The type of inheritance of this disease is autosomal recessive. <jats:italic>De novo<\/jats:italic> variants with this type of inheritance are rare, and it is quite possible that the <jats:italic>de novo<\/jats:italic> variant may hide a mosaic form in the parent of an affected child. We present a birth family with two affected children who inherited a previously undescribed pathogenic variant c.1755del from their mother and a previously described pathogenic variant c.9253C &amp;gt; T in the <jats:italic>LAMA2<\/jats:italic> gene from their mosaic father. <jats:italic>LAMA2<\/jats:italic> gene mutation analysis was performed by mass parallel sequencing and direct sequencing of genomic DNAs.<\/jats:p>","DOI":"10.3389\/fgene.2021.686800","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T06:39:08Z","timestamp":1635489548000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy"],"prefix":"10.3389","volume":"12","author":[{"given":"P. A.","family":"Chausova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. 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