Four novel point mutations in the  PMP22  gene with phenotypes of HNPP and Dejerine–Sottas neuropathy | Zendy

Brožková Dana | Zendy; Mazanec Radim | Zendy; Rychlý Zdeněk | Zendy; Haberlová Jana | Zendy; Böhm Jiří | Zendy; Staněk Jan | Zendy; Plevová Pavlína | Zendy; Lisoňová Jana | Zendy; Sabová Jana | Zendy; Sakmaryová Iva | Zendy; Seeman Pavel | Zendy

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Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

Author(s) -

Brožková Dana,

Mazanec Radim,

Rychlý Zdeněk,

Haberlová Jana,

Böhm Jiří,

Staněk Jan,

Plevová Pavlína,

Lisoňová Jana,

Sabová Jana,

Sakmaryová Iva,

Seeman Pavel

Publication year - 2011

Publication title -

muscle and nerve

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.025

H-Index - 145

eISSN - 1097-4598

pISSN - 0148-639X

DOI - 10.1002/mus.22189

Subject(s) - point mutation , phenotype , mutation , genetics , gene , gene duplication , biology , medicine

We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP. Muscle Nerve, 2011

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