Dystrophin or a "related protein" in Duchenne muscular dystrophy?

Abstract:

: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.

journal_name

Acta Neurol Scand

authors

Nicholson LV,Johnson MA,Davison K,O'Donnell E,Falkous G,Barron M,Harris JB

doi

10.1111/j.1600-0404.1992.tb08046.x

subject

Has Abstract

pub_date

1992-07-01 00:00:00

pages

8-14

issue

1

eissn

0001-6314

issn

1600-0404

journal_volume

86

pub_type

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