title: A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.
abstract: Congenital myopathy related to mutations in myosin MyHC IIa gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle weakness. Afterward only additional 4 recessive mutations have been identified in 5 patients presenting a mild non-progressive early-onset myopathy associated with ophthalmoparesis. We report a new de novo MYH2 missense mutation in a baby affected by a congenital myopathy characterized by severe dysphagia, respiratory distress at birth and external ophthalmoplegia. We describe clinical, histopathological and muscle imaging findings expanding the clinical and genetic spectrum of MYH2-related myopathy.
authors.affiliation: Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. adeledamico@hotmail.com
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: F
authors.initials: F
authors.lastname: Fattori
authors.forename: E
authors.initials: E
authors.lastname: Bellacchio
authors.forename: M
authors.initials: M
authors.lastname: Catteruccia
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D024701:Myosin Type V / Q000737:chemistry / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics / Q000473:pathology; D020539:Sequence Analysis, Protein
chemical_list: D003598:Cytoskeletal Proteins; C077511:MYO5A protein, human; D024701:Myosin Type V; D018995:Myosin Heavy Chains