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1999 | 1 |
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Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.
Muscle Nerve. 1994 Feb;17(2):151-60. doi: 10.1002/mus.880170204.
Muscle Nerve. 1994.
PMID: 8114783
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T.
Sjöberg G, et al.
Hum Mol Genet. 1999 Nov;8(12):2191-8. doi: 10.1093/hmg/8.12.2191.
Hum Mol Genet. 1999.
PMID: 10545598
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