Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin
Gerard Piñol‐Ripoll(Hospital Clínico Universitario Lozano Blesa), Lev G. Goldfarb(University Hospital of Basel), Juana Pelegrín(Hospital Clínico Universitario Lozano Blesa), Montse Olivé(Universitat Autònoma de Barcelona), Aleksey Shatunov(King's College London), Ana Cabello(Research Institute Hospital 12 de Octubre), Iris de la Puerta(Hospital Clínico Universitario Lozano Blesa), P Larrodé(Hospital Clínico Universitario Lozano Blesa), Feliciano J. Ramos(Universidad de Zaragoza)
Cited by 67
Related Papers
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
|Nature Genetics|2016|627
Distinct muscle imaging patterns in myofibrillar myopathies
|Neurology|2008|260
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
|The Lancet Neurology|2010|226
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
|The American Journal of Human Genetics|2010|159