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. |
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| 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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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2026.1809063 |
