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Article

Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach.

Journal of medical genetics - 1 Jun 2021

Laskaratos Achilleas, Breza Marianthi, Karadima Georgia, Koutsis Georgios

Abstract excerpt

BACKGROUND: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We presently sought to determine the range of reduced penetrance alleles in SBMA. METHODS: Through...

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Identifiers

PMID: 32571900
DOI: 10.1136/jmedgenet-2020-106963

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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