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Article

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.

American journal of medical genetics. Part A - 1 Oct 2020

Lee Bo Hoon, Mongiovi Phillip, Levade Thierry, Marston Bethany, Mountain Joan, Ciafaloni Emma

Abstract excerpt

Genetic variations in the ASAH1 gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA-PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA-PME is characterized by childhood onset progressive...

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Identifiers

PMID: 32627310
DOI: 10.1002/ajmg.a.61764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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