Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2009

Chen Bin, Zheng Riliang, Luan Xinghua, Zhang Wei, Wang Zhaoxia, Yuan Yun

Abstract excerpt

Seipinopathy is an autosomal dominant inherited distal motor neuropathy caused by Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene mutations. We describe a Chinese family with seipinopathy in which nine patients from four successive generations were involved. The onset of age was from 13 to 40 years. Among them six were distal hereditary motor neuropathy type II with predominant weakness of lower...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to GTP-Binding Protein gamma Subunits
Share to Hand

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Motor Neuron Disease

Share to Nerve Degeneration

Share to Nerve Fibers, Myelinated

Share to Neurodegenerative Diseases

Share to Sensory Receptor Cells

Share to Sural Nerve

Source

Identifiers

PMID: 19323790
DOI: 10.1111/j.1440-1789.2009.01011.x

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.PMID 19323790Read ↗

Clinical and electrophysiological features in a French family presenting with seipinopathy.Semantic proximity Read ↗

The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.Semantic proximity Read ↗

N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.Semantic proximity Read ↗

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.Semantic proximity Read ↗

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.Semantic proximity Read ↗

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.Semantic proximity Read ↗

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.Semantic proximity Read ↗

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.Semantic proximity Read ↗

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.Semantic proximity Read ↗

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.Semantic proximity Read ↗

A new seipin-associated neurodegenerative syndrome.Semantic proximity Read ↗

Seipin: from human disease to molecular mechanism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.