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Article

Dilated cardiomyopathy in mucolipidosis type 2.

Journal of biological regulators and homeostatic agents - 1 Jan 2000

Carboni E, Sestito S, Lucente M, Morrone A, Zampini L, Chimenz R, Ceravolo M D, De Sarro R, Ceravolo G, Calabrò M P, Parisi F, Moricca M T, Pensabene L, Musolino D, Concolino D

Abstract excerpt

Mucolipidosis II and III are lysosomal storage diseases caused by pathogenetic mutations in GNPTAB and GNPTG genes which cause an impaired activity of the lysosomal hydrolase N-acetylglucosamine- 1-phosphotransferase, a key enzyme in the synthesis of the mannose-6-phosphate targeting signals on lysosomal enzymes. Patients with MLII alpha/beta present coarse facial features, cessation of statural growth, important...

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PMID: 33000604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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