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Updated: Aug 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Central core disease. Study of a family with five affected generations
Abstract:
A family is described in which at least 37 members in five generations living in Australia have suffered from a rare congenital myopathy--central core disease (CCD). Histochemical and ultrastructural features typical of CCD were present on muscle biopsy. Although there are variations in clinical expression, a relatively benign and nonprogressive course is usual. Inheritance of CCD in this family conforms to an autosomal dominant pattern with a high degree of penetrance.
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