title: Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.
abstract: An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.|Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Cabrera-Serrano
authors.affiliation: Section of Neuropathology, Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia, Australia.
authors.forename: V A
authors.initials: VA
authors.lastname: Fabian
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Boutilier
authors.affiliation: Department of Diagnostic Genomics, Pathwest Laboratory Medicine WA, Perth, Western Australia, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Wise
authors.affiliation: Department of Diagnostic Genomics, Pathwest Laboratory Medicine WA, Perth, Western Australia, Australia.
authors.forename: F
authors.initials: F
authors.lastname: Faiz
authors.affiliation: Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.
authors.forename: P J
authors.initials: PJ
authors.lastname: Lamont
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D000595:Amino Acid Sequence; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000235:genetics*; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D055815:Young Adult
chemical_list: D018995:Myosin Heavy Chains
keywords: MYH2; myosinopathy; oculopharyngodistal myopathy; ophthalmoplegia