infantile onset progressive cerebellar atrophy and anterior horn cell degeneration a novel phenotype associated with mutations in the pla2g6 gene

December 20, 2021 12:30 pm Published by Leave your thoughts

In this paper, Wolfson Medical Center reports on a homozygous mutation in the PLA2G6 gene detected in two siblings from a consanguineous Moslem Arabic family with a unique combination of progressive cerebellar atrophy and a SMA-like anterior horn cell degeneration. PLA2G6 was thus suggested to affect late-onset Pontocerebellar hypoplasia (PCH).

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