A novel NF-L mutation pro22ser is associated with CMT2 in a large Slovenian family

Neurogenetics

Volumn 4, Issue 2, 2002, Pages 93-96

  Georgiou, Domna Maria ^a   Zidar, Janez ^b   Korošec, Marko ^b   Middleton, Lefkos T ^c   Kyriakides, Theodoros ^a   Christodoulou, Kyproula ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^c GLAXOSMITHKLINE   (United Kingdom)

Author keywords

Charcot Marie Tooth; CMT2; Novel neurofilament light mutation

Indexed keywords

CONNEXIN 32; KINESIN; MYELIN PROTEIN; PROLINE; SERINE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FEMALE; GENE LOCATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NERVE FIBER; NEUROFILAMENT; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLOVENIA;

AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; FAMILY HEALTH; FEMALE; HUMANS; MALE; NEUROFILAMENT PROTEINS; PEDIGREE; POINT MUTATION; SLOVENIA;

EID: 0036819173     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-002-0138-4     Document Type: Article

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