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01.09.2004 | Original Article

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

verfasst von: Kleopas A. Kleopa, Domna-Maria Georgiou, Paschalis Nicolaou, Pantelitsa Koutsou, Eleftherios Papathanasiou, Theodoros Kyriakides, Kyproula Christodoulou

Erschienen in: Neurogenetics | Ausgabe 3/2004

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Abstract.

We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.

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Titel: A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
verfasst von: Kleopas A. Kleopa
Domna-Maria Georgiou
Paschalis Nicolaou
Pantelitsa Koutsou
Eleftherios Papathanasiou
Theodoros Kyriakides
Kyproula Christodoulou
Publikationsdatum: 01.09.2004
Verlag: Springer-Verlag
Erschienen in: Neurogenetics / Ausgabe 3/2004
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-004-0184-1

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