Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

Neurology

Volumn 66, Issue 5, 2006, Pages 745-747

  Kabzinska D ^a   Drac, H ^a,b   Sherman, D L ^c   Kostera Pruszczyk, A ^b   Brophy, P J ^c   Kochanski A ^a   Hausmanowa Petrusewicz, I ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROGLYCAN; DYSTROPHIN; LAMININ RECEPTOR; MYELIN ASSOCIATED GLYCOPROTEIN; MYELIN BASIC PROTEIN; PERIAXIN; PROTEIN; UNCLASSIFIED DRUG; UTROPHIN; MEMBRANE PROTEIN;

ARTICLE; CASE REPORT; CHROMOSOME 19Q; DEMYELINATION; ELECTROMYOGRAPHY; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE WEAKNESS; NERVE BIOPSY; NEUROPATHY; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRX GENE; SCHOOL CHILD; SURAL NERVE; CHILD; EXON; GENE DELETION; GENETICS; HETEROZYGOTE DETECTION; PATHOLOGY;

AGE OF ONSET; CHARCOT-MARIE-TOOTH DISEASE; CHILD; EXONS; HETEROZYGOTE DETECTION; HUMANS; MALE; MEMBRANE PROTEINS; SEQUENCE DELETION; SURAL NERVE;

EID: 33645894702     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000201269.46071.35     Document Type: Article

References (10)

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