Limb-girdle muscular dystrophy 2J caused by mutations in C-terminal titin has so far been identified in Finnish patients only. This may in part be due to limited availability of diagnostic tests for titin defects. In this report, a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described. One deceased patient in the family proved to be homozygous for the C-terminal truncating titin mutation because of consanguinity. According to available medical records, the patient had a clearly more severe generalised muscle weakness and atrophy phenotype not recognised as a distal myopathy at the time. Autopsy findings in one of the original Finnish limb-girdle muscular dystrophy 2J patients were reported and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed.
- Limb-girdle muscular dystrophy 2J
- tibial muscular dystrophy
- TTN mutation
- distal myopathies
- muscular dystrophy
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Funding The study was supported by grants (BU) from the Samfundet Folkhälsan Funds, the Sigrid Jusélius Foundation, the Vaasa Central Hospital research funds and the Academy of Finland research funds.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.