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Article

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.

BMC cardiovascular disorders - 10 May 2016

Oikawa Masayoshi, Sakamoto Nobuo, Kobayashi Atsushi, Suzuki Satoshi, Yoshihisa Akiomi, Yamaki Takayoshi, Nakazato Kazuhiko, Suzuki Hitoshi, Saitoh Shu-Ichi, Kiko Yuichirou, Nakano Hajime, Hayashi Takeharu, Kimura Akinori, Takeishi Yasuchika

Abstract excerpt

BACKGROUND: Fabry disease is caused by mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA. Among many gene mutations, E66Q mutation is under discussion for its pathogenicity because there is no clinical report showing pathological evidence of Fabry disease with E66Q mutation. CASE PRESENTATION: A 65-year-old Japanese female was referred to our...

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Source

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Identifiers

PMID: 27160240
DOI: 10.1186/s12872-016-0262-y
PMCID: PMC4862085

Genes

GLA
MYBPC3
MYH6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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