A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.
Danon disease is caused by deficiency of lysosome-associated membrane protein-2 (LAMP-2). It is characterized clinically by cardiomyopathy, myopathy, and mental retardation in boys. Herein we report a 13-year-old female patient with Danon disease who presented with early-onset skeletal myopathy and cardiomyopathy. She had a de novo novel mutation in the LAMP2 gene, and her muscles showed many autophagic vacuoles with sarcolemmal features and complete absence of LAMP-2 expression. To the best of our knowledge, this girl is one of the earliest-onset manifesting carriers of Danon disease with typical muscle pathology.
Kim
Hunmin
H
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea, 110-744.
Cho
Anna
A
Lim
Byung Chan
BC
Kim
Min Jung
MJ
Kim
Ki Joong
KJ
Nishino
Ichizo
I
Hwang
Yong Seung
YS
Chae
Jong-Hee
JH
D000293:Adolescent; D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology* / Q000473:pathology; D005260:Female; D052120:Glycogen Storage Disease Type IIb / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D018908:Muscle Weakness / Q000209:etiology* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D012016:Reference Values; D014617:Vacuoles / Q000473:pathology
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins