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Article

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

Annals of neurology - 1 Mar 2005

Auer-Grumbach Michaela, Schlotter-Weigel Beate, Lochmüller Hanns, Strobl-Wildemann Gertrud, Auer-Grumbach Piet, Fischer Renate, Offenbacher Hans, Zwick Ernst Bernhard, Robl Tanja, Hartl Gerald, Hartung Hans-Peter, Wagner Klaus, Windpassinger Christian

Abstract excerpt

Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype enabled us to...

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PMID: 15732094
DOI: 10.1002/ana.20410

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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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