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Article

Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X.

Reproductive biomedicine online - 1 Nov 2003

Iacobelli M, Greco E, Rienzi L, Ubaldi F, Podini D, Nuccitelli A, Tesarik J, Baldi M, Fiorentino F

Abstract excerpt

The X-linked dominant form of Charcot-Marie-Tooth syndrome (CMTX) is a clinically and genetically heterogeneous hereditary disorder of the peripheral nerves caused by mutations in the GJB1 gene that encodes a gap junction protein named connexin 32 (Cx32). Clinically, CMTX is characterized by peripheral motor and sensory deficit with muscle atrophy. A couple with a previous history of pregnancy termination after...

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Source

Identifiers

PMID: 14680548
DOI: 10.1016/s1472-6483(10)62072-x

Genes

GJB1
PGD

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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Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X.PMID 14680548Read ↗

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