Mutations in the nebulin gene can cause severe congenital nemaline myopathy
C Wallgren-Pettersson, K Donner, C Sewry… - Neuromuscular …, 2002 - Elsevier
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 ranging from the first day of life to
19 months. Only three of the six neonates were able to establish spontaneous respiration …
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 ranging from the first day of life to
19 months. Only three of the six neonates were able to establish spontaneous respiration …