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A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.

Kim, Hunmin; Cho, Anna; Lim, Byung Chan; Kim, Min Jung; Kim, Ki Joong; Nishino, Ichizo; Hwang, Yong Seung; Chae, Jong-Hee.
Muscle Nerve; 41(6): 879-82, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20513107
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.
Selo DaSilva