The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
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| Title: | The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy. |
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| Authors: | Altin N; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr., Mamchaoui K; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr., Ohana J; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr., Bigot A; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr., Corradi B; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy, iit.it.; Department of Experimental Medicine, University of Genova, Genoa, Italy, unige.it., Maragliano L; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy, iit.it.; Department of Life and Environmental Sciences, Polytechnic University of Marche, Ancona, Italy, univpm.it., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org., Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org., Nosrati MSS; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy, unige.it., Paladini D; Fetal Medicine and Surgery Unit, Department Mother and Child, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org., Rashid A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA, harvard.edu., Bodamer O; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA, harvard.edu., Quijano-Roy S; Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches, France., Punetha J; GeneDx, Gaithersburg, Maryland, USA, genedx.com., Capra V; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy, unige.it., Trollet C; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr., Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy, unige.it. |
| Source: | Human mutation [Hum Mutat] 2025 Dec 28; Vol. 2025, pp. 1785045. Date of Electronic Publication: 2025 Dec 28 (Print Publication: 2025). |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/humu/1785045 |
