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Article

A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jun 2006

Tomik Barbara, Partyka Dorota, Sułek Anna, Kurek-Gryz Elzbieta A, Banach Marta, Ostrowska Monika, Zaremba Jacek, Figlewicz Denise A, Szczudlik Andrzej

Abstract excerpt

We studied phenotype-genotype correlation in a group of Polish males with spinal and bulbar muscular atrophy (SBMA) and in female carriers. Eleven males with suspected SBMA phenotype and three suspected female carriers were examined. Male patients presented with the predominant signs of progressive, symmetrical distal limb weakness with amyotrophy, facial muscular weakness with orofacial fasciculations, nasal...

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PMID: 16753970
DOI: 10.1080/17482960600664839

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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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