Minicores and congential fibre type disproportion observed in a family.

Abstract:

OBJECTIVE:To report a family in which congenital fibre type disproportion (CFTD) and minicore disease have been observed in members of the same family, and raise the question of the relationship between CFTD and minicores. METHODOLOGY:A follow-up clinical and biopsy study of a girl who presented to hospital because of marked hypotonia and non-progressive weakness. She had muscle biopsies at the age of 18 months and again at 4 1/2 years. Her asymptomatic parents were also biopsied. The muscle specimens were processed for histopathological and morphometric studies. RESULTS:The histopathological findings of the muscle of the daughter were consistent with CFTD. The muscle biopsy of her father was normal whereas her mother's revealed minicore formation. CONCLUSIONS: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.

authors

Jongpiputvanich S,Walsh PJ,Kakulas BA

doi

10.1111/j.1440-1754.1995.tb00797.x

subject

Has Abstract

pub_date

1995-06-01 00:00:00

pages

253-7

issue

3

eissn

1034-4810

issn

1440-1754

journal_volume

31

pub_type

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