Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
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.
Poppe
Maja
M
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom.
Bourke
John
J
Eagle
Michelle
M
Frosk
Patrick
P
Wrogemann
Klaus
K
Greenberg
Cheryl
C
Muntoni
Francesco
F
Voit
Thomas
T
Straub
Volker
V
Hilton-Jones
David
D
Shirodaria
Cheerag
C
Bushby
Kate
K
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
C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins