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Article

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy.

BMJ case reports - 27 Oct 2021

Bogdanova-Mihaylova Petya, McNamara Patricia, Burton-Jones Sarah, Murphy Sinéad M

Abstract excerpt

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in SLC12A6 (solute carrier family 12, member 6) encoding the K+-Cl- transporter KCC3 have been identified as the genetic cause of HMSN/ACC. We describe fraternal twins...

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Identifiers

PMID: 34706912
DOI: 10.1136/bcr-2021-244641
PMCID: PMC8552160

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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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