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A 13‐year‐old girl with proximal weakness and hypertrophic cardiomyopathy with danon disease
Author(s) -
Kim Hunmin,
Cho Anna,
Lim Byung Chan,
Kim Min Jung,
Kim Ki Joong,
Nishino Ichizo,
Hwang Yong Seung,
Chae JongHee
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21614
Subject(s) - hypertrophic cardiomyopathy , myopathy , cardiomyopathy , medicine , girl , disease , weakness , pathology , cardiology , endocrinology , heart failure , genetics , biology , anatomy
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. Muscle Nerve, 2010