Tibial muscular dystrophy in a Belgian family.
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.
Van den Bergh
Peter Y K
PY
Centre de Référence Neuromusculaire, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium. vandenbergh@nchm.ucl.ac.be
Bouquiaux
Olivier
O
Verellen
Christine
C
Marchand
Sylvie
S
Richard
Isabelle
I
Hackman
P
P
Udd
Bjarne
B
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
D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D004247:DNA; D011494:Protein Kinases; D003402:Creatine Kinase