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Article

Clinical and electrophysiological features in a French family presenting with seipinopathy.

Neuromuscular disorders : NMD - 1 Feb 2015

Ollivier Yolaine, Magot Armelle, Latour Philippe, Perrier Julie, Mercier Sandra, Maisonobe Thierry, Péréon Yann

Abstract excerpt

Seipinopathies are a group of inherited diseases affecting upper and lower motor neurons due to mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2). We report a French family carrying the N88S mutation in the BSCL2 gene. A 12-yr-old girl complained of bilateral asymmetrical pes cavus with right hand motor deficit and amyotrophy, asymmetrical leg amyotrophy and pyramidal signs....

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Source

Identifiers

PMID: 25454168
DOI: 10.1016/j.nmd.2014.10.006

Genes

BSCL2

Variants

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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