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MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.

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Title: MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.
Authors: Velardo D; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Alberti C; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy., Gagliardi D; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Del Bo R; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy., Ciscato P; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Napoli L; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy., Zanotti S; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ripolone M; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Croce MG; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Cosentino G; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.; Translational Neurophysiology Research Unit, IRCCS Mondino Foundation, Pavia, Italy., Tumminello G; Department of Cardio-Thoracic-Vascular Diseases, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Locatelli M; Unit of Neurosurgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico of Milan, Milan, Italy.; Department of Medical-Surgical Physiopathology and Transplantation, University of Milan, Milan, Italy., Comi GP; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Corti S; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy., Ravaglia S; Neuromuscular Unit, IRCCS Mondino Foundation, Pavia, Italy., Ronchi D; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Source: Frontiers in genetics [Front Genet] 2026 May 14; Vol. 17, pp. 1809063. Date of Electronic Publication: 2026 May 14 (Print Publication: 2026).
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: MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.
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  Data: <searchLink fieldCode="AU" term="%22Velardo+D%22">Velardo D</searchLink>; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Alberti+C%22">Alberti C</searchLink>; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gagliardi+D%22">Gagliardi D</searchLink>; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Del+Bo+R%22">Del Bo R</searchLink>; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ciscato+P%22">Ciscato P</searchLink>; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Napoli+L%22">Napoli L</searchLink>; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Zanotti+S%22">Zanotti S</searchLink>; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ripolone+M%22">Ripolone M</searchLink>; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Croce+MG%22">Croce MG</searchLink>; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Cosentino+G%22">Cosentino G</searchLink>; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.; Translational Neurophysiology Research Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Tumminello+G%22">Tumminello G</searchLink>; Department of Cardio-Thoracic-Vascular Diseases, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Locatelli+M%22">Locatelli M</searchLink>; Unit of Neurosurgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico of Milan, Milan, Italy.; Department of Medical-Surgical Physiopathology and Transplantation, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Comi+GP%22">Comi GP</searchLink>; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Corti+S%22">Corti S</searchLink>; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ravaglia+S%22">Ravaglia S</searchLink>; Neuromuscular Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Ronchi+D%22">Ronchi D</searchLink>; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 May 14; Vol. 17, pp. 1809063. <i>Date of Electronic Publication: </i>2026 May 14 (<i>Print Publication: </i>2026).
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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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