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Dystrophin or a “related protein” in Duchenne muscular dystrophy?
Author(s) -
Nicholson L. V. B.,
Johnson M. A.,
Davison K.,
O'Donnell E.,
Falkous G.,
Barron M.,
Harris J. B.
Publication year - 1992
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1992.tb08046.x
Subject(s) - dystrophin , duchenne muscular dystrophy , utrophin , muscular dystrophy , biology , microbiology and biotechnology , genetics
Previously we have shown low levels of dystrophin immunoreactivity in muscle from patients with DMD. According to the “frame‐shift hypothesis” DMD muscle should not synthesize any dystrophin through to the C‐terminus and it has been suggested that the protein detected is not dystrophin, but a related autosomal homologue. We have labelled serial sections of DMD muscle with specific monoclonal antibodies to the amino, rod and C‐terminal domains of dystrophin and find labelling on the same individual fibres, allowing us to conclude that the protein detected is Xp21‐encoded dystrophin. This has an impact on the interpretation of myoblast transfer experiments. The abundance (on blots) of “C‐terminal dystrophin” appears lower than “rod dystrophin” in both BMD and DMD.