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Article

[Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search for the molecular diagnostics model].

Medycyna wieku rozwojowego - 1 Jan 2000

Kabzińska Dagmara, Franaszczyk Maria, Kochański Andrzej

Abstract excerpt

UNLABELLED: THE AIM was focused on molecular analysis of the selected genes associated with autosomal recessive Charcot-Marie-Tooth neuropathies (AR-CMT) and construction of a molecular diagnostic algorithm in this group of disorders in the Polish population. MATERIAL AND METHODS: We analyzed a group of 138 subjects from 62 families with probably autosomal recessive inheritance and the control group of 52...

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Source

Identifiers

PMID: 19837996

Genes

GDAP1
PRX
CTDP1
EGR2
PMP22

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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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