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Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy

18 May 2019

Abstract excerpt

Infantile hereditary lower motor neuron disorders beyond 5q-spinal muscular atrophy (5q-SMA) are usually caused by mutations other than deletions or mutations in SMN1. In addition to motor neuron degeneration, further neurologic or multisystemic pathologies in non-5q-SMAs are not seldom. Some of the non-5q-SMA phenotypes, such as pontocerebellar hypoplasia (PCH1), have been classified later as a different disease...

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PMID: 31102495
DOI: 10.1002/ajmg.a.61198

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