Author:
Harris Elizabeth,Töpf Ana,Vihola Anna,Evilä Anni,Barresi Rita,Hudson Judith,Hackman Peter,Herron Brian,MacArthur Daniel,Lochmüller Hanns,Bushby Kate,Udd Bjarne,Straub Volker
Funder
Rare Diseases Advisory Group Service for Neuromuscular Diseases
Medical Research Council UK
Muscular Dystrophy-UK Clinical Training and Research Fellowship
National Human Genome Research Institute
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
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4. Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy;Evila;Mol Neurobiol,2016
5. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure;Pfeffer;J Neurol Neurosurg Psychiatry,2014
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