Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
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. Three had arthrogryposis. In three of the five families, the mutations were located in exon 184. These mutations are predicted to cause absence of the C-terminal part of nebulin.
Department of Medical Genetics, University of Helsinki, P.O. Box 211, 0251, Helsinki, Finland. carina.wallgren@helsinki.fi
Carina
C
Wallgren-Pettersson
Kati
K
Donner
Caroline
C
Sewry
Emilia
E
Bijlsma
Martin
M
Lammens
Kate
K
Bushby
Maria Luisa
ML
Giovannucci Uzielli
Elisabetta
E
Lapi
Sylvie
S
Odent
Zuhal
Z
Akcoren
Haluk
H
Topaloğlu
Katarina
K
Pelin
D001706:Biopsy; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000276:immunology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics*; D010375:Pedigree
D009124:Muscle Proteins; C035620:nebulin