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Article

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Neuromuscular disorders : NMD - 1 Oct 2015

Wagner Justin D, Huang Lijia, Tetreault Martine, Majewski Jacek, Boycott Kym M, Bulman Dennis E, Dyment David A, McMillan Hugh J

Abstract excerpt

Charcot-Marie-Tooth disease is a group of genetically heterogeneous disorders characterized by a sensorimotor polyneuropathy with subsequent muscle atrophy, areflexia, and sensory loss. More than 60 genes have been linked to Charcot-Marie-Tooth phenotypes, including IGHMBP2. Until recently, mutations in IGHMBP2 were exclusively associated with spinal muscular atrophy with respiratory distress (SMARD1). We present...

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Source

Identifiers

PMID: 26298607
DOI: 10.1016/j.nmd.2015.07.017

Genes

IGHMBP2

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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