TY - JOUR
T1 - Repairing the tears
T2 - Dysferlin in muscle membrane repair
AU - Doherty, Katherine R.
AU - McNally, Elizabeth M.
N1 - Funding Information:
E.M.M. is supported by the Muscular Dystrophy Association, the Burroughs Wellcome Fund and the NIH, and is an established investigator of the American Heart Association. K.R.D. is supported by the National Science Foundation.
PY - 2003/8/1
Y1 - 2003/8/1
N2 - Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears. Thus, two broad categories of muscle membrane defects can now be defined: those with inherent instability and those with compromised repair. The latter might be relevant for muscle wasting that occurs with aging.
AB - Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears. Thus, two broad categories of muscle membrane defects can now be defined: those with inherent instability and those with compromised repair. The latter might be relevant for muscle wasting that occurs with aging.
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U2 - 10.1016/S1471-4914(03)00136-9
DO - 10.1016/S1471-4914(03)00136-9
M3 - Short survey
C2 - 12928033
AN - SCOPUS:0042427273
SN - 1471-4914
VL - 9
SP - 327
EP - 330
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
IS - 8
ER -