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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype

Figure 1

Presentation of the retrospective study design. Between 07/2011 and 12/2013 86 new patients presented at the Fabry center of the University Hospital Muenster with Fabry-typical neurological manifestations such as small fiber neuropathy with neuropathic pain, or stroke/TIA of unknown etiology. Out of 86 patients 49 had classical Fabry disease-causing mutations, 12 patients were symptomatic -10T allele carriers and 25 patients had no GLA mutation. Two asymptomatic patients were identified by family screening. We analyzed GLA expression in all detected -10T allele carriers and retrospectively analyzed clinical data.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172