1.
Folia Med (Plovdiv)
; 64(5): 853-862, 2022 Oct 31.
Article
in English
| MEDLINE
| ID: mdl-36876541
ABSTRACT
Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of LAMP2 protein.