title: Myotilinopathy in a family with late onset myopathy.
abstract: Mutations in titin are well known cause of late onset autosomal dominant distal myopathy. Mutations in another sarcomeric protein, myotilin, were first identified in two families with dominant limb girdle muscular phenotype. Recently, however, myotilin mutations have been associated with more distal phenotypes in patients with late onset myofibrillar myopathy. We report here a multigenerational French family in which gene sequencing identified a S60F myotilin mutation in all patients with full penetrance despite very late onset. The family was originally reported as a distal myopathy but intrafamilial variability was remarkable with proximal or distal muscle weakness or both. Extended morphological characteristics of muscle biopsy findings in myotilinopathy indicate that immunohistochemistry may be important for selection of molecular genetic approach in myofibrillar myopathy.
authors.affiliation: Département de Neurologie, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, 49033 Angers, France. ispenisson-besnier@chu-angers.fr
authors.forename: Isabelle
authors.initials: I
authors.lastname: Pénisson-Besnier
authors.forename: Kati
authors.initials: K
authors.lastname: Talvinen
authors.forename: Catherine
authors.initials: C
authors.lastname: Dumez
authors.forename: Anna
authors.initials: A
authors.lastname: Vihola
authors.forename: Frédéric
authors.initials: F
authors.lastname: Dubas
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Peter
authors.initials: P
authors.lastname: Hackman
authors.forename: Olli
authors.initials: O
authors.lastname: Carpen
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D017668:Age of Onset; D001706:Biopsy; D064211:Connectin; D003598:Cytoskeletal Proteins / Q000235:genetics*; D049310:Distal Myopathies / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D005602:France; D005838:Genotype; D006801:Humans; D008297:Male; D008840:Microfilament Proteins; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D017354:Point Mutation; D052097:Quadriceps Muscle / Q000473:pathology
chemical_list: D064211:Connectin; D003598:Cytoskeletal Proteins; C577290:MYOT protein, human; D008840:Microfilament Proteins; D009124:Muscle Proteins