[Tibial muscular dystrophy. A rare form of distal myopathy].
Tibial muscular dystrophy (TMD) is a dominantly inherited late onset distal leg myopathy only described in the Finnish population as yet. A similar disorder was described by Markesbery et al. in 1974 in one American family. Assignment of the TMD locus to chromosome 2q31 has been demonstrated (Haravuori et al., 1998). We recently described a French family with clinical and laboratory findings similar to TMD (de Seze et al., 1998). Molecular genetic results indicate that the distal myopathy in this family could be linked to the TMD locus confirming TMD exists outside the Finish population. This overview of TMD will allow to describe differential diagnoses such as other distal myopathies and scapuloperoneal syndromes.
de Seze
J
J
Clinique Neurologique, Hôpital R. Salengro, CHRU de Lille, France.
Udd
B
B
Vermersch
P
P
D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D013977:Tibia / Q000473:pathology*
La myopathie tibiale. Une forme rare de myopathie distale.