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Article

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.

Annals of the New York Academy of Sciences - 14 Sept 1999

Seeman P, Mazanec R, Marikova T, Rautenstrauss B

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10586280

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Related research

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Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.PMID 10586280Read ↗

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

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Variable phenotypes are associated with PMP22 missense mutations.Semantic proximity Read ↗

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].Semantic proximity Read ↗

PMP22 Thr118Met is not a clinically relevant CMT1 marker.Semantic proximity Read ↗

Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.Semantic proximity Read ↗

Atypical phenotype of charcot-marie-tooth disease type 1A.Semantic proximity Read ↗

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.Semantic proximity Read ↗

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?Semantic proximity Read ↗

Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.Semantic proximity Read ↗

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