Familial Fingerprint Body Myopathy

Abstract

Muscle biopsy specimens from two half brothers with a congenital benign muscle disorder and from their mother, clinically unaffected, were studied by histochemistry and electron microscopy. In the children's biopsy specimens, the ultrastructural examination showed numerous fingerprint bodies located at the periphery of the muscle fibers. The histochemical pattern was different in these two specimens. In the mother's biopsy specimen, while fingerprint bodies were not found, the muscle fibers showed slight but definite changes. Even if the fingerprint bodies by themselves are not specific for a particular muscle disease, their occurrence in two half brothers is a valid argument in favor of the individalization of the fingerprint body myopathy, which has been previously described.

Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop December 12–14, 1997, Naarden, The Netherlands

“…The first case was described by A.G. Engel [6] and only five other cases have since been reported. Of these, four were familial, affecting two half-brothers [7] and two identical twins [8]. These children had non-progressive or slowly progressive muscle weakness of early onset.…”

Fingerprint Body Myopathy: a Report of Twins

“…These inclusions may be demonstrated on ultrastructural examination of muscle fibers by electron microscopy. Since the original description of this condition by Engel et al in 1972, three more cases have been described by Gordon et al (1974) and Fardeau et al (1976) (see Table I). All these patients, as well as the two children described here, fulfil the definition of a congenital myopathy as Payne Francis M. grinner indicated by : (1) a non-progressive weakness first noted in early infancy;…”