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Article

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2001

Baysal B E, Rubinstein W S, Taschner P E

Abstract excerpt

This review presents our current knowledge on the genetic and phenotypic aspects of mitochondrial complex II gene defects. The mutations of the complex II subunits cause two strikingly different group of disorders, revealing a phenotypic dichotomy. Genetic disorders of the mitochondrial respiratory chain are often characterized by hypotonia, growth retardation, cardiomyopathy, myopathy, neuropathy, organ failure,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11692162
DOI: 10.1007/s001090100267

Genes

SDHA
SDHD
SDHB
SDHC

Provenance

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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