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Article

Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.

Neuromuscular disorders : NMD - 1 Jan 2000

Salih M A, Maisonobe T, Kabiraj M, al Rayess M, al-Turaiki M H, Akbar M, Tahan A, Urtizberea J A, Grid D, Hamadouche T, Guilbot A, Brice A, Leguern E

Abstract excerpt

We describe a six generation Saudi kindred, with a recessive hereditary motor and sensory neuropathy (HMSN). Four individuals were affected including two children (a boy and a girl) and a 23-year-old man. The fourth (a female) died at the age of 14 years. Onset of the disease was early (< 2 years) and the clinical and neurophysiological features were, generally, quite similar to those of an Italian family linked...

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Share to Chromosomes, Human, Pair 11
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Hereditary Sensory and Motor Neuropathy

Share to Microscopy, Electron

Share to Myelin Sheath

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Source

Identifiers

PMID: 10677858
DOI: 10.1016/s0960-8966(99)00057-7

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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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