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Article

Single nucleotide polymorphisms of the fukutin gene.

Journal of human genetics - 1 Jan 2001

Cao H, Yuen J, Hegele R A

Abstract excerpt

Mutations in the LMNA gene, which encodes nuclear lamins A and C, underlie both Emery-Dreifuss muscular dystrophy (EMD2) and Dunnigan-type familial partial lipodystrophy (FPLD). This indicates that one gene can cause different phenotypes characterized by tissue degeneration. The gene for one form of Berardinelli-Seip-type congenital total lipodystrophy (BSCL) has been mapped to chromosome 9q34. Based on the...

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Source

Identifiers

PMID: 11501948
DOI: 10.1007/s100380170050

Genes

LMNA

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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Single nucleotide polymorphisms of the fukutin gene.PMID 11501948Read ↗

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