B Badurska

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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)
54 patients from 45 families were examined one to twelve years after the hospitalization in the Department of Neurology in Warsaw in period between the years 1980 and 1992. The diagnosis of the limb-girdle muscular dystrophy (LGMD) was established, or seriously considered during the first examination. Presently verification of the diagnosis is performed on(More)
DNA analysis was carried out in 113 patients of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22(More)