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We performed clinical and electrophysiological studies in 42 children with hereditary motor and sensory neuropathy type I and II (HMSN I and HMSN II) and in 103 members of their families. In 24 families with HMSN I the conduction velocity and the latency were markedly changed in the nerves innervating the distal muscles (median, peroneal nerves), as well as(More)
A boy with onset features common for a moderate form of congenital nemaline myopathy, after some years developed scapulo-humeral syndrome. Extra- and intrafusal muscle fibers overloaded with rods and indicating focal degenerative changes were seen in the first biopsy. The biopsy was later repeated and revealed an improvement in muscle architecture with a(More)
DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most(More)