Article
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Annals of neurology - 1 Dec 2015
Donkervoort S, Papadaki M, de Winter J M, Neu M B, Kirschner J, Bolduc V, Yang M L, Gibbons M A, Hu Y, Dastgir J, Leach M E, Rutkowski A, Foley A R, Krüger M, Wartchow E P, McNamara E, Ong R, Nowak K J, Laing N G, Clarke N F, Ottenheijm Cac, Marston S B, Bönnemann C G
Abstract excerpt
OBJECTIVE: Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We report two patients with novel de novo Tpm3.12 single glutamic acid deletions at positions ΔE218 and ΔE224, resulting in a significant hypercontractile phenotype with congenital muscle stiffness, rather than weakness, and respiratory failure in one patient....
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