Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.

Although current insight indicated that nonsense, frameshift, and large deletion/duplication mutations were associated with an early onset of Danon disease, whereas splicing and missense mutations showed a trend of a later disease onset (D'Souza et al., 2014 ), missense mutations located at the start codon confirmed as null mutations are associated with an early onset in our case.

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