MINICORES AND CONGENITAL FIBER-TYPE DISPROPORTION OBSERVED IN A FAMILY

Objective: To report a family in which congenital fibre type dispropor tion (CFTD) and minicore disease have been observed in members of the same family, and raise the question of the relationship between CFTD a nd minicores. Methodology: A follow-up clinical and biopsy study of a girl who presented to hospital because of marked hypotonia and non-pro gressive weakness. She had muscle biopsies at the age of 18 months and again at 4 1/2 years. Her asymptomatic parents were also biopsied. Th e muscle specimens were processed for histopathological and morphometr ic studies. Results: The histopathological findings of the muscle of t he daughter were consistent with CFTD. The muscle biopsy of her father was normal whereas her mother's revealed minicore formation. Conclusi ons: The findings of CFTD and minicore disease in members of the same family suggest that CFTD and minicore formation may both be the result of a common pathological mechanism rather than each being a distinct clinicopathological entity.