title: Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.
abstract: Limb-girdle muscular dystrophy 2J caused by mutations in C-terminal titin has so far been identified in Finnish patients only. This may in part be due to limited availability of diagnostic tests for titin defects. In this report, a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described. One deceased patient in the family proved to be homozygous for the C-terminal truncating titin mutation because of consanguinity. According to available medical records, the patient had a clearly more severe generalised muscle weakness and atrophy phenotype not recognised as a distal myopathy at the time. Autopsy findings in one of the original Finnish limb-girdle muscular dystrophy 2J patients were reported and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed.
authors.affiliation: Département de Neurologie, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, 49933 Angers Cedex 9, France. ispenisson-besnier@chu-angers.fr
authors.forename: I
authors.initials: I
authors.lastname: Pénisson-Besnier
authors.forename: P
authors.initials: P
authors.lastname: Hackman
authors.forename: T
authors.initials: T
authors.lastname: Suominen
authors.forename: J
authors.initials: J
authors.lastname: Sarparanta
authors.forename: S
authors.initials: S
authors.lastname: Huovinen
authors.forename: I
authors.initials: I
authors.lastname: Richard-Crémieux
authors.forename: B
authors.initials: B
authors.lastname: Udd
mesh_terms: D000369:Aged, 80 and over; D002648:Child; D064211:Connectin; D017809:Fatal Outcome; D005260:Female; D005387:Finland; D005602:France; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011494:Protein Kinases / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary
chemical_list: D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D011494:Protein Kinases