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Article

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.

American journal of medical genetics. Part A - 15 May 2004

Casas Kari, Bykhovskaya Yelena, Mengesha Emebet, Wang Dai, Yang Huiying, Taylor Kent, Inbal Aida, Fischel-Ghodsian Nathan

Abstract excerpt

Mitochondrial myopathy and sideroblastic anemia (MSA) is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. Individuals with MSA present with weakness and anemia in late childhood and may become dependent on blood transfusions. Recently, we reported affected sibling pairs from a Jewish-Iranian kindred living in the US [Casas and Fischel-Ghodsian, 2003]. A genome scan and fine...

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Source

Identifiers

PMID: 15103716
DOI: 10.1002/ajmg.a.20652

Genes

GALNT9
MMP17
PUS1
ULK1

Provenance

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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