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Article

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Neurogenetics - 1 Jan 2016

Cao Michelangelo, Donà Marta, Valentino M Lucia, Valentino Lucia, Semplicini Claudio, Maresca Alessandra, Cassina Matteo, Torraco Alessandra, Galletta Eva, Manfioli Valeria, Sorarù Gianni, Carelli Valerio, Stramare Roberto, Bertini Enrico, Carrozzo Rosalba, Salviati Leonardo, Pegoraro Elena

Abstract excerpt

Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the...

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Identifiers

PMID: 26556812
DOI: 10.1007/s10048-015-0465-x

Genes

PUS1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.PMID 26556812Read ↗

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