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Article

Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2024

Cumbo Francesca, Tosi Michele, Mizzoni Irene, Catteruccia Michela, Carlesi Adelina, Bertini Enrico, D'Amico Adele

Abstract excerpt

BACKGROUND: X-Linked Myotubular Myopathy (XLMTM) is a severe congenital myopathy, potentially fatal within the first years. Patients present several complications and their cognitive development has never been explored deeply so far. An in-depth knowledge on the disease natural history, including the neurocognitive and adaptive profile, is essential in light of the promising new therapeutic perspectives. METHODS:...

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Identifiers

PMID: 38824722
DOI: 10.1016/j.ejpn.2024.05.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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