Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

Brain

Volumn 120, Issue 1, 1997, Pages 47-63

  Tyson, J ^a   Ellis, D ^a   Fairbrother, U ^a   King, R H M ^b   Muntoni, F ^c   Jacobs, J ^d   Malcolm, S ^a   Harding, A E ^d   Thomas, P K ^b,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Demyelination; Hereditary motor and sensory neuropathy; Myelin protein zero; Peripheral myelin protein 22

Indexed keywords

MYELIN PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 17; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MYELIN SHEATH; NERVE BIOPSY; NERVE CONDUCTION; PERIPHERAL NEUROPATHY; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DEMYELINATING DISEASES; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; NEURAL CONDUCTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SURAL NERVE;

EID: 0031044004     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/120.1.47     Document Type: Article

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