Article
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
Human molecular genetics - 1 Jul 2015
Olivé Montse, Abdul-Hussein Saba, Oldfors Anders, González-Costello José, van der Ven Peter F M, Fürst Dieter O, González Laura, Moreno Dolores, Torrejón-Escribano Benjamín, Alió Josefina, Pou Adolf, Ferrer Isidro, Tajsharghi Homa
Abstract excerpt
Protein aggregate myopathies (PAMs) define muscle disorders characterized by protein accumulation in muscle fibres. We describe a new PAM in a patient with proximal muscle weakness and hypertrophic cardiomyopathy, whose muscle fibres contained inclusions containing myosin and myosin-associated proteins, and aberrant distribution of microtubules. These lesions appear as intact A- and M-bands lacking thin filaments...
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