title: Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.
authors.affiliation: Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, , Tokyo, Japan.
authors.forename: Akinori
authors.initials: A
authors.lastname: Uruha
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D064211:Connectin / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D030342:Genetic Diseases, Inborn / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000453:epidemiology* / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D064211:Connectin; C577285:TTN protein, human
keywords: MUSCLE DISEASE