Article
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Annals of neurology - 1 Apr 2007
Carmignac Virginie, Salih Mustafa A M, Quijano-Roy Susana, Marchand Sylvie, Al Rayess Molham M, Mukhtar Maowia M, Urtizberea Jon A, Labeit Siegfried, Guicheney Pascale, Leturcq France, Gautel Mathias, Fardeau Michel, Campbell Kevin P, Richard Isabelle, Estournet Brigitte, Ferreiro Ana
Abstract excerpt
OBJECTIVE: The giant protein titin is essential for striated muscle development, structure, and elasticity. All titin mutations reported to date cause late-onset, dominant disorders involving either skeletal muscle or the heart. Our aim was to delineate the phenotype and determine the genetic defects in two consanguineous families with an early-onset, recessive muscle and cardiac disorder. METHODS: Clinical and...
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