Article
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain : a journal of neurology - 1 Jan 2017
Vasli Nasim, Harris Elizabeth, Karamchandani Jason, Bareke Eric, Majewski Jacek, Romero Norma B, Stojkovic Tanya, Barresi Rita, Tasfaout Hichem, Charlton Richard, Malfatti Edoardo, Bohm Johann, Marini-Bettolo Chiara, Choquet Karine, Dicaire Marie-Josée, Shao Yi-Hong, Topf Ana, O'Ferrall Erin, Eymard Bruno, Straub Volker, Blanco Gonzalo, Lochmüller Hanns, Brais Bernard, Laporte Jocelyn, Tétreault Martine
Abstract excerpt
Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. We identified two...
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