Population
A family including a girl presenting with marked hypotonia and non-progressive weakness, and her…
Design
Case_report
Follow-up
up to 4.5 years of age for the daughter
Authors
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CFTD and minicore co-occurrence in one family is hypothesis-generating; leaves open shared mechanisms pending genetic studies.
The presence of both congenital fibre type disproportion and minicore disease in the same family suggests they may share a common pathological mechanism.
Jongpiputvanich et al. (1995) studied this question.
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