Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR

Acta Neuropathologica

Volumn 100, Issue 5, 2000, Pages 459-463

  Beckmann, A ^a   Schroder, J M ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Charcot Marie Tooth disease type 1; Hereditary neuropathy with liability to pressure palsy

Indexed keywords

DNA FRAGMENT; MICROSATELLITE DNA; MYELIN PROTEIN;

ADULT; ARTICLE; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETIC NEUROPATHY; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DNA DEGRADATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; METHODOLOGY; MORPHOLOGY; NERVE BIOPSY; NERVE PARALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING; SURAL NERVE;

BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENE DELETION; GENE DOSAGE; GENES, DUPLICATE; GENETIC SCREENING; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MYELIN PROTEINS; POLYMERASE CHAIN REACTION; SURAL NERVE; TISSUE BANKS;

EID: 0033812874     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010000264     Document Type: Article

References (14)

1. Direct-double-differential PCR for gene dosage quantification of c-myc
2. Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction
3. Double-differential PCR for gene dosage estimation of erbB oncogenes in benign and cancer tissues and comparison to cellular DNA content
4. Normalized Southern hybridization to enhance testing for Charcot-Marie-Tooth disease, type 1A
5. Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations
6. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion
7. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies
8. Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR
9. Competitive-differential polymerase chain reaction for gene dosage estimation of erbB-1 (egfr), erbB-2, and erbB-3 oncogenes
10. Atypical hereditary neuropathy with liability to pressure palsies (HNPP): The value of direct DNA diagnosis
11. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies
12. Target length and primer concentration affect the gain of c-erbB2 and p53 amplicons
13. PMP22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: Correlation to structural changes
14. Hypertrophic neuropathy: Atypical appearances resulting from the combination of type I hereditary motor and sensory neuropathy and diabetes mellitus