Article
Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
Neuromuscular disorders : NMD - 1 Oct 2002
Wallgren-Pettersson Carina, Donner Kati, Sewry Caroline, Bijlsma Emilia, Lammens Martin, Bushby Kate, Giovannucci Uzielli Maria Luisa, Lapi Elisabetta, Odent Sylvie, Akcoren Zuhal, Topaloğlu Haluk, Pelin Katarina
Abstract excerpt
Previously, we reported results indicating that nebulin was the gene causing the typical form of autosomal recessive nemaline (rod) myopathy. Here we describe the identification of mutations in the nebulin gene in seven offspring of five families affected by the severe congenital form of nemaline myopathy. One pregnancy was terminated on the grounds of foetal abnormality, while six affected infants died at ages...
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