title: Tibial muscular dystrophy in a Belgian family.
abstract: We report a Belgian family with autosomal dominant, late-onset, distal myopathy with selective foot extensor muscle involvement of the lower legs. Linkage to the tibial muscular dystrophy (TMD) locus 2q31 was not evident at first because of incomplete disease penetrance in a 50-year-old asymptomatic family member. An abnormal tibialis anterior muscle biopsy established her subclinical status and linkage of the family to the TMD locus. Mutation analysis showed a disease-specific, heterozygous point mutation in the last exon, Mex6, of the titin gene. This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations.
authors.affiliation: Centre de Référence Neuromusculaire, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium. vandenbergh@nchm.ucl.ac.be
authors.forename: Peter Y K
authors.initials: PY
authors.lastname: Van den Bergh
authors.forename: Olivier
authors.initials: O
authors.lastname: Bouquiaux
authors.forename: Christine
authors.initials: C
authors.lastname: Verellen
authors.forename: Sylvie
authors.initials: S
authors.lastname: Marchand
authors.forename: Isabelle
authors.initials: I
authors.lastname: Richard
authors.forename: P
authors.initials: P
authors.lastname: Hackman
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D000368:Aged; D001530:Belgium; D064211:Connectin; D003402:Creatine Kinase / Q000097:blood; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D020233:Gait Disorders, Neurologic / Q000503:physiopathology; D006801:Humans; D007866:Leg / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011494:Protein Kinases / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D004247:DNA; D011494:Protein Kinases; D003402:Creatine Kinase