Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion (Q58184616)

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Antonio García

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Onofre Combarros

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José I. Mateo

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José Berciano

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María J. Sedano

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Eduardo J. Gutiérrez-Rivas

Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

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publication date

2 August 2001

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published in

Muscle and Nerve

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volume

24

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issue

9

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page(s)

1149-1155

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cites work

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Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy

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Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

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Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2

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Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.

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Recurrent polyradiculoneuropathy with the 17p11.2 deletion.

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Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.

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Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

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Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

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Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2.

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Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies

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Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

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Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

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Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1

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Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group

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Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

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Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion

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A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings

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Conduction block in hereditary neuropathy with susceptibility to pressure palsies

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Deletions of chromosome 17p11.2 in multifocal neuropathies

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Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication

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Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study

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Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

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