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...

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Bibliographic Details
Published in:Annals of neurology 2003-08, Vol.54 (2), p.248-251
Main Authors: Van den Bergh, Peter Y. K., Bouquiaux, Olivier, Verellen, Christine, Marchand, Sylvie, Richard, Isabelle, Hackman, P., Udd, Bjarne
Format: Article
Language:English
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
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Summary: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
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.10647