Clin Genet. 1991 Mar;39(3):233-7.

Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.

Nagao Y, Nakashima H, Fukuhara Y, Shimmoto M, Oshima A, Ikari Y, Mori Y, Sakuraba H, Suzuki Y.

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Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.

Abstract

A new variant form of Fabry disease with hypertrophic cardiomyopathy of late onset is reported. Two unrelated male hemizygotes of this disease first presented with signs and symptoms of cardiomyopathy after 50 years of age. Cultured lymphoblastoid cells showed significantly higher residual alpha-galactosidase A activities than in the patients with classical phenotypic expressions.

PMID:: 1645238; [PubMed - indexed for MEDLINE]

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alpha-Galactosidase

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Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. [Biochim Biophys Acta. 2000]
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[Atypical phenotype of Fabry disease. Evidence of a new mutation].
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Review Fabry disease in patients with hypertrophic cardiomyopathy (HCM).
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Cited by 4 PubMed Central articles

Frequency of Fabry disease in male and female haemodialysis patients in Spain. [BMC Med Genet. 2010]
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, Andrade CF, Forascepi R, Macias J, del Pino MD, Prados MD, et al. BMC Med Genet. 2010 Feb 1; 11:19. Epub 2010 Feb 1.
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. [Clin J Am Soc Nephrol. 2008]
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S. Clin J Am Soc Nephrol. 2008 Jan; 3(1):139-45. Epub 2007 Nov 14.
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. [J Med Genet. 2001]
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.
MacDermot KD, Holmes A, Miners AH. J Med Genet. 2001 Nov; 38(11):750-60.

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