A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

European Journal of Neurology

Volumn 15, Issue 6, 2008, Pages 548-551

  Barankova L ^a,e   Siskova D ^b   Huhne K ^c   Vyhnalkova E ^d   Sakmaryova I ^d   Bojar, M ^a   Rautenstrauss, B ^c,d   Seeman, P ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Faculty Thomayer's Hospital   (Czech Republic)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d Medizinisch Genetisches Zentrum   (Germany)

^e Nemocnice České Budějovice As ^*  (Czech Republic)

Author keywords

ARCMT; Charcot Marie Tooth disease; CMT4F; Demyelinating CMT; PRX

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONSANGUINITY; CONTROLLED STUDY; CZECH REPUBLIC; DEMYELINATING NEUROPATHY; DISEASE COURSE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GIPSY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; PERIAXIN GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AGE OF ONSET; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; DEMYELINATING DISEASES; FEMALE; GENETIC SCREENING; GYPSIES; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; PEDIGREE; SEQUENCE DELETION;

EID: 43549097368     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2008.02104.x     Document Type: Article

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