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Article

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Mitochondrion - 1 Jan 2011

Verny Christophe, Guegen Naig, Desquiret Valerie, Chevrollier Arnaud, Prundean Adriana, Dubas Frederic, Cassereau Julien, Ferre Marc, Amati-Bonneau Patrizia, Bonneau Dominique, Reynier Pascal, Procaccio Vincent

Abstract excerpt

Hereditary spastic paraplegia refers to a genetically heterogeneous syndrome. We identified five members of a family suffering from a late-onset spastic paraplegia-like disorder, carrying the homoplasmic m.9176 T>C mutation in the mitochondrial ATP6 gene. The clinical severity of the disease observed in the family was correlated with the biochemical and assembly defects of the ATP synthase. The m.9176 T>C...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20656066
DOI: 10.1016/j.mito.2010.07.006

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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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