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Tibial muscular dystrophy in a Belgian family

✍ Scribed by Peter Y. K. Van den Bergh; Olivier Bouquiaux; Christine Verellen; Sylvie Marchand; Isabelle Richard; P. Hackman; Bjarne Udd

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 127 KB
Volume: 54
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.10647

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✦ Synopsis

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. Ann Neurol 2003

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