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Article

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

Journal of neurology - 1 Sept 2020

Gang Qiang, Bettencourt Conceição, Holton Janice, Lovejoy Christopher, Chelban Viorica, Oconnor Emer, Yuan Yun, Reilly Mary M, Hanna Michael, Houlden Henry

Abstract excerpt

OBJECTIVE: To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family. METHODS: The patients were recruited from our clinic. Muscle biopsy and whole-exome sequencing (WES) were performed. Fibroblasts cell lines from the index patient, unaffected parents, and three normal controls were used for cDNA analysis and western blot. RESULTS: The index patient was a 29-year-old male...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32444983
DOI: 10.1007/s00415-020-09827-y
PMCID: PMC7419361

Provenance

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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