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Article

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.

Journal of neuropathology and experimental neurology - 4 Dec 2020

Brown Susan C, Fernandez-Fuente Marta, Muntoni Francesco, Vissing John

Abstract excerpt

Mutations in the fukutin-related protein gene, FKRP, are the most frequent single cause of α-dystroglycanopathy. Rare FKRP mutations are clinically not well characterized. Here, we review the phenotype associated with the rare c.919T>A mutation in FKRP in humans and mice. We describe clinical and paraclinical findings in 6 patients, 2 homozygous, and 4-compound heterozygous for c.919T>A, and compare findings with...

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PMID: 33051673
DOI: 10.1093/jnen/nlaa120

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