title: Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
abstract: The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness.
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.|Department of Neurology, Hospital Prof, Doutor Fernando Fonseca, Amadora, Portugal.
authors.forename: Simao
authors.initials: S
authors.lastname: Cruz
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.|Centro de Investigación Básica en Red en Enfermedaded Raras (CIBERER), Spain.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Figueroa-Bonaparte
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.|Centro de Investigación Básica en Red en Enfermedaded Raras (CIBERER), Spain.
authors.forename: Eduard
authors.initials: E
authors.lastname: Gallardo
authors.affiliation: Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France.
authors.forename: Alix
authors.initials: A
authors.lastname: de Becdelièvre
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, Inserm UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
authors.forename: Corine
authors.initials: C
authors.lastname: Gartioux
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, Inserm UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Allamand
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.|Centro de Investigación Básica en Red en Enfermedaded Raras (CIBERER), Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Piñol
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Maria Angels Rodriguez
authors.initials: MA
authors.lastname: Garcia
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Jiménez-Mallebriera
authors.affiliation: Department of Radiology, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Llauger
authors.affiliation: Centro de Investigación Básica en Red en Enfermedaded Raras (CIBERER), Spain.|Department of Genetic, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.
authors.forename: Lidia
authors.initials: L
authors.lastname: González-Rodríguez
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.|Centro de Investigación Básica en Red en Enfermedaded Raras (CIBERER), Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Cortes-Vicente
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.|Centro de Investigación Básica en Red en Enfermedaded Raras (CIBERER), Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Illa
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autónoma de Barcelona, Spain.|Centro de Investigación Básica en Red en Enfermedaded Raras (CIBERER), Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Díaz-Manera
mesh_terms: D000328:Adult; D024142:Collagen Type VI / Q000235:genetics / Q000378:metabolism; D003286:Contracture / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D018450:Disease Progression; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020125:Mutation, Missense; D010641:Phenotype; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D024142:Collagen Type VI
keywords: Bethlem disease; Ulrich disease; collagen VI deficiency; muscle MRI; muscle dystrophy