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Article

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

American journal of human genetics - 10 Dec 2010

Agarwal Anil K, Xing Chao, DeMartino George N, Mizrachi Dario, Hernandez Maria Dolores, Sousa Ana Berta, Martínez de Villarreal Laura, dos Santos Heloísa G, Garg Abhimanyu

Abstract excerpt

We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families....

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Source

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Identifiers

PMID: 21129723
DOI: 10.1016/j.ajhg.2010.10.031
PMCID: PMC2997366

Genes

PSMB8

Variants

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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PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.PMID 21129723Read ↗

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