Article
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Neurology - 15 Dec 2015
De Cid Rafael, Ben Yaou Rabah, Roudaut Carinne, Charton Karine, Baulande Sylvain, Leturcq France, Romero Norma Beatriz, Malfatti Edoardo, Beuvin Maud, Vihola Anna, Criqui Audrey, Nelson Isabelle, Nectoux Juliette, Ben Aim Laurène, Caloustian Christophe, Olaso Robert, Udd Bjarne, Bonne Gisèle, Eymard Bruno, Richard Isabelle
Abstract excerpt
OBJECTIVE: To identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. METHODS: We performed targeted exome sequencing on one patient presenting a deficiency in calpain 3 on Western blot but for which mutations in the gene had been excluded. The identification of a homozygous truncating mutation in the M-line part of titin prompted us to sequence this...
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