Article
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
Neuromuscular disorders : NMD - 1 Oct 2012
Jarraya Mohamed, Quijano-Roy Susana, Monnier Nicole, Béhin Anthony, Avila-Smirnov Daniela, Romero Norma Beatriz, Allamand Valérie, Richard Pascale, Barois Annie, May Adrien, Estournet Brigitte, Mercuri Eugenio, Carlier Pierre G, Carlier Robert-Yves
Abstract excerpt
Beta-tropomyosin 2 (TPM2) gene mutations are a rare cause of congenital myopathy with variable clinical and histological features. We describe muscle involvement using Whole-Body muscle Magnetic Resonance Imaging (WBMRI) in 8 individuals with genetically proven TPM2 mutations and different clinical and histological features (nemaline myopathy, 'cap disease', Bethlem-like phenotype, arthrogryposis). Most patients...
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