Autosomal dominant multicore disease.

Abstract

SUMMARY Two girls and their mother with multicore myopathy are described. The cores consisted of Z band disorganisation and decreased or absent enzyme activity. Only one case has clinical signs of myopathy. Muscle enzyme activity was elevated in the two children. The mode of inheritance was autosomal dominant.The first case of benign congenital nonprogressive myopathy with multiple cores was reported in 1966 by AG Engel.' Histochemical and electron microscopic studies in this and subsequent case reports2-7 revealed strikingly similar patterns. Three additional cases-two girls and their mother-are now described. They present some particular features: creatinekinase activity was elevated in the two children, the severity of clinical signs and histological changes varies in the three cases and the mode of inheritance seems to be autosomal dominant, in contrast with previous case reports. Case reportsCase I A five-year-old girl presented in 1977 with complaints of excessive muscular fatiguability of the lower legs and cramps in the calves, the latter disappearing when standing on tiptoe. Pregnancy and birth (in June 1972) were uneventful. Birth weight was 3200 g. Motor development was normal; she sat at 6 months and walked at the age of 1 year. When she was 4 years old she became unable to walk long distances because of muscular fatiguability. At school, gym lessons had to be missed for the same reason, During the last year (1980)(1981)

Multicore myopathy presenting in adulthood with respiratory failure

“…Type I fibers tend to predominate and are often small and preferentially affected, but both type I and type II fibers may be involved. Sporadic occurrence, 6 autosomal dominant 15,25 and recessive 9,12,18 patterns of inheritance, and a variety of associated abnormalities, both clinical 3,7,14,22 and pathological 1,8,9,13,15,17,20,23,24 have been described.…”

Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications

“…It occurred sporadically in the three individuals reported here, but both dominant and recessive inheritance have been noted (Engel et al 1971, Paljarvi et al 1987. Asymptomatic parents may show changes on muscle biopsy (Vanneste and Stam 1982). The condition has been reported in twins (Heffner et al 1976).…”

Multi-minicore disease revisited

“…Rare autosomal dominant cases diagnosed as MmD 27,28 have not yet been submitted to genetic molecular analysis. Molecular heterogeneity was confirmed because mutations in RYR1 as well as SEPN1 genes have been identified.…”