title: Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
abstract: Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure. Heterozygotes for the common C826A mutation developed cardiac involvement earlier than homozygotes. All patients initially improved while receiving standard therapy. Independent of cardiac status, forced vital capacity was below 75% in 44.4% of the patients. There was no absolute correlation between skeletal muscle weakness and cardiomyopathy or respiratory insufficiency. These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management.
authors.affiliation: Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom.
authors.forename: Maja
authors.initials: M
authors.lastname: Poppe
authors.forename: John
authors.initials: J
authors.lastname: Bourke
authors.forename: Michelle
authors.initials: M
authors.lastname: Eagle
authors.forename: Patrick
authors.initials: P
authors.lastname: Frosk
authors.forename: Klaus
authors.initials: K
authors.lastname: Wrogemann
authors.forename: Cheryl
authors.initials: C
authors.lastname: Greenberg
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.forename: David
authors.initials: D
authors.lastname: Hilton-Jones
authors.forename: Cheerag
authors.initials: C
authors.lastname: Shirodaria
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D004452:Echocardiography / Q000379:methods; D004562:Electrocardiography / Q000379:methods; D005260:Female; D006331:Heart Diseases / Q000209:etiology* / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D011506:Proteins / Q000235:genetics; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000235:genetics; D012189:Retrospective Studies; D014797:Vital Capacity / Q000502:physiology
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins