Case report: A single novel calpain 3 gene variant associated with mild myopathy.
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| Title: | Case report: A single novel calpain 3 gene variant associated with mild myopathy. |
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| Authors: | Massucco S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy., Fossa P; Department of Pharmacy, Section of Medicinal Chemistry, School of Medical and Pharmaceutical Sciences, University of Genoa, Genova, Italy., Fiorillo C; Paediatric Neurology and Neuromuscular Disorders Unit, University of Genoa and IRCCS Istituto Giannina Gaslini, Genova, Italy., Faedo E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy., Gemelli C; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Barresi R; IRCCS San Camillo Hospital, Venice, Italy., Ripolone M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Patrone S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy., Gaudio A; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Mandich P; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Gotta F; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Baratto S; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy., Traverso M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Pisciotta L; IRCCS Ospedale Policlinico San Martino, Genova, Italy.; Department of Internal Medicine (DiMI), School of Medical and Pharmaceutical Sciences, University of Genoa, Genova, Italy., Zaottini F; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Camera M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy., Scarsi E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy., Grandis M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy. |
| Source: | Frontiers in genetics [Front Genet] 2024 Dec 05; Vol. 15, pp. 1437859. Date of Electronic Publication: 2024 Dec 05 (Print Publication: 2024). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2024.1437859 |
