title: Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
abstract: Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres. The clinical features overlap with muscular dystrophies, myofibrillar myopathies, neurogenic conditions and congenital myasthenic syndromes. We describe a case of cap myopathy with myasthenic features due to a mutation in the TPM2 gene that responded to anticholinesterase therapy. We also review other published cases of congenital myopathies with neuromuscular transmission abnormalities. This report expands the spectrum of congenital myopathies with secondary neuromuscular transmission defects. The recognition of these cases is important since these conditions can benefit from treatment with drugs enhancing neuromuscular transmission.
authors.affiliation: Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, UK.
authors.forename: Pedro M
authors.initials: PM
authors.lastname: Rodríguez Cruz
authors.affiliation: The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK; Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK.
authors.forename: Caroline
authors.initials: C
authors.lastname: Sewry
authors.affiliation: Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, UK.
authors.forename: David
authors.initials: D
authors.lastname: Beeson
authors.affiliation: Department of Paediatric Neurology, Children's Hospital, John Radcliffe Hospital, Oxford, UK.
authors.forename: Sandeep
authors.initials: S
authors.lastname: Jayawant
authors.affiliation: Department of Neuropathology and Ocular Pathology, John Radcliffe Hospital, Oxford, UK.
authors.forename: Waney
authors.initials: W
authors.lastname: Squier
authors.affiliation: Department of Paediatric Neurology, Royal Hospital for Sick Children, Glasgow, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: McWilliam
authors.affiliation: Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK. Electronic address: jacqueline.palace@ndcn.ox.ac.uk.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Palace
mesh_terms: D000293:Adolescent; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020511:Neuromuscular Junction Diseases / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D014335:Tropomyosin / Q000235:genetics*
chemical_list: D002800:Cholinesterase Inhibitors; C518659:TPM2 protein, human; D014335:Tropomyosin
keywords: Acetylcholine receptor; Acetylcholinesterase inhibitors; BIN1; Centronuclear myopathies; Congenital myasthenic syndromes; Congenital myopathies; DNM2; Fibre type disproportion; MTM1; Neuromuscular junction; Neuromuscular transmission; Plectinopathy; RYR1; TPM2; TPM3; Tropomyosin