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Article

[Clinical features of a genetically identified spinal and  bulbar muscular atrophy pedigree].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Oct 2016

Wang Zhe, Chen Qihua, Li Qiuxiang, Bi Fangfang

Abstract excerpt

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity....

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Source

Identifiers

PMID: 27807335
DOI: 10.11817/j.issn.1672-7347.2016.10.015

Genes

SMN1

Provenance

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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