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Article

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

Muscle & nerve - 1 Sept 2010

Luigetti M, Fabrizi G M, Madia F, Ferrarini M, Conte A, Delgrande A, Tonali P A, Sabatelli M

Abstract excerpt

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory...

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Source

Identifiers

PMID: 20806400
DOI: 10.1002/mus.21734

Genes

BSCL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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