Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
The most common autosomal recessive form of nemaline myopathy is due to mutations in the nebulin gene. Among eight patients studied, we identified one, a 14-year-old girl, with a specific pattern of diffuse rods in muscle fibers. Western blot analysis detected absence of the C-terminal domain of nebulin. Protein analysis may represent a good screening method to direct molecular studies in the case of very large and complex genes such as the large 1298 kb nebulin gene.
Gurgel-Giannetti
J
J
Center for the Study of the Human Genome, Biosciences Institute, University of São Paulo, R. do Matão 106, São Paulo SP-CEP 05508-900, Brazil.|Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Bang
M-L
ML
European Molecular Biology Laboratory, Heidelberg, Germany.
Reed
U
U
Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Marie
S
S
Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Zatz
M
M
Center for the Study of the Human Genome, Biosciences Institute, University of São Paulo, R. do Matão 106, São Paulo SP-CEP 05508-900, Brazil.
Labeit
S
S
European Molecular Biology Laboratory, Heidelberg, Germany.
Vainzof
M
M
Center for the Study of the Human Genome, Biosciences Institute, University of São Paulo, R. do Matão 106, São Paulo SP-CEP 05508-900, Brazil.
D000293:Adolescent; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000502:physiology*; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology
D009124:Muscle Proteins; C035620:nebulin