Tibial muscular dystrophy in a Belgian family

• Published in: Annals of neurology Vol. 54; no. 2; pp. 248 - 251
• Main Authors: Van den Bergh, Peter Y. K., Bouquiaux, Olivier, Verellen, Christine, Marchand, Sylvie, Richard, Isabelle, Hackman, P., Udd, Bjarne
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-08-2003; Willey-Liss
• Subjects: Aged; Belgium; Biological and medical sciences; Connectin; Creatine Kinase - blood; Diseases of striated muscles. Neuromuscular diseases; DNA - genetics; DNA Mutational Analysis; Electromyography; Exons - genetics; Family; Female; Gait Disorders, Neurologic - physiopathology; Humans; Leg - pathology; Leg - physiopathology; Male; Medical sciences; Middle Aged; Muscle Proteins - genetics; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Muscular Dystrophies - genetics; Muscular Dystrophies - physiopathology; Neurology; Pedigree; Point Mutation - genetics; Protein Kinases - genetics; Tomography, X-Ray Computed; Belgium; Human; Neuromuscular diseases; Nervous system diseases; Gene; Pathophysiology; Tibia; Autosomal character; Genetics; Mutation; Muscular dystrophy; Genetic disease
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.10647

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. Ann Neurol 2003