Associated Papers
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.
Liu XZ et al.
Human Molecular Genetics, 2001
[Sensorimotor neuropathy with X-linked dominant inheritance].
Rubenskaia GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2001
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Bort S et al.
Human Genetics, 1997
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