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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.
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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  Data: Case report: A single novel calpain 3 gene variant associated with mild myopathy.
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  Data: <searchLink fieldCode="AU" term="%22Massucco+S%22">Massucco S</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Fossa+P%22">Fossa P</searchLink>; Department of Pharmacy, Section of Medicinal Chemistry, School of Medical and Pharmaceutical Sciences, University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Fiorillo+C%22">Fiorillo C</searchLink>; Paediatric Neurology and Neuromuscular Disorders Unit, University of Genoa and IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Faedo+E%22">Faedo E</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Gemelli+C%22">Gemelli C</searchLink>; IRCCS Ospedale Policlinico San Martino, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Barresi+R%22">Barresi R</searchLink>; IRCCS San Camillo Hospital, Venice, Italy.<br /><searchLink fieldCode="AU" term="%22Ripolone+M%22">Ripolone M</searchLink>; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Patrone+S%22">Patrone S</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Gaudio+A%22">Gaudio A</searchLink>; IRCCS Ospedale Policlinico San Martino, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Mandich+P%22">Mandich P</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Gotta+F%22">Gotta F</searchLink>; IRCCS Ospedale Policlinico San Martino, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Baratto+S%22">Baratto S</searchLink>; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Traverso+M%22">Traverso M</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Pisciotta+L%22">Pisciotta L</searchLink>; IRCCS Ospedale Policlinico San Martino, Genova, Italy.; Department of Internal Medicine (DiMI), School of Medical and Pharmaceutical Sciences, University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Zaottini+F%22">Zaottini F</searchLink>; IRCCS Ospedale Policlinico San Martino, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Camera+M%22">Camera M</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Scarsi+E%22">Scarsi E</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Grandis+M%22">Grandis M</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2024 Dec 05; Vol. 15, pp. 1437859. <i>Date of Electronic Publication: </i>2024 Dec 05 (<i>Print Publication: </i>2024).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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