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Tibial muscular dystrophy in a Belgian family.

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Van den Bergh, Peter [UCL] Bouquiaux, Olivier Dumoulin, Christine [UCL] Marchand, Sylvie Richard, Isabelle Udd, Bjarne

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.

Document type Article de périodique (Journal article) – Article de recherche – Case Reports, Journal Article
Access type Accès restreint
Publication date 2003
Language Anglais
Journal information "Annals of neurology" - Vol. 54, no. 2, p. 248-51 (2003)
Peer reviewed yes
issn 0364-5134
Publication status Publié
Affiliations UCL - MD/NOPS - Département de neurologie et de psychiatrie
UCL - (SLuc) Service de neurologie
MESH Subject Aged ; Belgium ; Creatine Kinase - blood ; DNA - genetics ; DNA Mutational Analysis ; Electromyography ; Exons - genetics ; Family ; Female ; Gait Disorders, Neurologic - physiopathology ; Humans ; Leg - pathology - physiopathology ; Male ; Middle Aged ; Muscle Proteins - genetics ; Muscle, Skeletal - pathology - physiopathology ; Muscular Dystrophies - genetics - physiopathology ; Pedigree ; Point Mutation - genetics ; Protein Kinases - genetics ; Tomography, X-Ray Computed
Links
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Bibliographic reference Van den Bergh, Peter ; Bouquiaux, Olivier ; Dumoulin, Christine ; Marchand, Sylvie ; Richard, Isabelle ; et. al. Tibial muscular dystrophy in a Belgian family.. In: Annals of neurology, Vol. 54, no. 2, p. 248-51 (2003)
Permanent URL http://hdl.handle.net/2078.1/9540