Article
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Neurology - 1 Oct 2013
Ceyhan-Birsoy Ozge, Agrawal Pankaj B, Hidalgo Carlos, Schmitz-Abe Klaus, DeChene Elizabeth T, Swanson Lindsay C, Soemedi Rachel, Vasli Nasim, Iannaccone Susan T, Shieh Perry B, Shur Natasha, Dennison Jane M, Lawlor Michael W, Laporte Jocelyn, Markianos Kyriacos, Fairbrother William G, Granzier Henk, Beggs Alan H
Abstract excerpt
OBJECTIVE: To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in infancy or early life with weakness and hypotonia, using next-generation sequencing of whole exomes and genomes. METHODS: Whole-exome or -genome sequencing was performed in a cohort of 29 unrelated patients with clinicopathologic diagnoses of CNM or related...
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