Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
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DOI: 10.1001/jamaophthalmol.2020.6085
Abstract: Importance Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous… read more here.
Keywords: dystrophy; cln5; variant 415t; macular dystrophy ... See more keywords