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Article

Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.

Molecular genetics and metabolism - 1 Apr 2022

Tinker Rory J, Falk Marni J, Goldstein Amy, George-Sankoh Ibrahim, Xiao Rui, Adang Laura, Ganetzky Rebecca

Abstract excerpt

BACKGROUND: Leigh spectrum syndrome (LSS) is a primary mitochondrial disorder characterized by neurodevelopmental regression and metabolic stroke typically in early life. Developmental delay (DD) is known to follow episodes of neurologic regression in LSS, although primary developmental delay (pDD) has been rarely reported. We hypothesized that pDD precedes regression in a broader subset of LSS individuals and...

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Identifiers

PMID: 35216885
DOI: 10.1016/j.ymgme.2022.02.006
PMCID: PMC8965798

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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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