Brain Advance Access published online on April 30, 2007
Brain, doi:10.1093/brain/awm073
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© The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Scientific Commentary |
More surprises in sarcomeric protein diseases
Centre for Medical Research
University of Western Australia
Western Australian Institute for Medical Research
B Block
QEII Medical Centre
Nedlands
Western Australia 6009
Australia
Correspondence to:
E-mail: nlaing@cyllene.uwa.edu.au
| The first 10% of the full text of this article appears below. |
In this issue of Brain, three papers (Wallgren-Pettersson et al., Griggs et al. and Walter et al.) expand the horizons of skeletal muscle diseases caused by mutations in sarcomeric proteins.
Two of the papers (Wallgren-Pettersson et al., and Griggs et al.) deal solely with distal myopathies. One of the most unexpected discoveries in the sarcomeric protein disease field has been that mutations in sarcomeric proteins can cause distal myopathies. Each distal myopathy preferentially affects what can be a bizarre collection of specific, restricted muscles. In the early-onset distal myopathy, MPD1, this starts with the tibialis anterior and later extends to the flexor hallucis longus, long finger extensors, sternocleidomastoids and the medial head of the gastrocnemius (Lamont et al., 2006
). What sort of gene can do that to a patient? One might think of genes involved in positional information. However,