Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.
We describe 7 transplanted heart recipients from a single family with limb-girdle muscular dystrophy type 1B linked to a mutation of the LMNA gene in the splice donor site of the exon 9 (IVS 9+1:g>a). These patients did not display higher early postoperative or late complications than other heart transplant recipients at a mean follow-up of 8 years (range 1-17 years). Noticeably, there was no case of rhabdomyolysis and skeletal muscle symptoms were not markedly impaired.
Ambrosi
Pierre
P
Mouly-Bandini
Annick
A
Attarian
Sharam
S
Habib
Gilbert
G
D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000601:surgery*; D005260:Female; D016027:Heart Transplantation; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
C494847:LMNA protein, human; D034904:Lamin Type A