Congenital hypomyelination in conjunction with De-novo mutation in the gene for the peripheral myelin protein 22 - The first confirmed case in the CR and review of the literature

Ceska a Slovenska Neurologie a Neurochirurgie

Volumn 65, Issue 3, 2002, Pages 206-212

  Seeman, P ^a   Cibochova R ^a   Benes Jr V ^a   Loefgren, A ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Charcot Marie Tooth; Congenital hypomyelination; Dejerine Sottas; HMSN III; Onion bulbs; PMP22

Indexed keywords

CYTOSINE; EARLY GROWTH RESPONSE FACTOR 2; LEUCINE; MYELIN PROTEIN; MYELIN PROTEIN ZERO; PERIPHERAL MYELIN PROTEIN 22; SERINE; THYMINE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CONGENITAL HYPOMYELINATION NEUROPATHY; CONTROLLED STUDY; DEMYELINATION; DISEASE COURSE; DISEASE SEVERITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; INTELLIGENCE; MALE; MOLECULAR GENETICS; MOTOR NERVE CONDUCTION; MOTOR RETARDATION; MUSCLE HYPERTROPHY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYELINATED NERVE; NERVE BIOPSY; NERVE FIBER; NEUROLOGIC EXAMINATION; NEWBORN PERIOD; ONSET AGE; PHENOTYPE; POINT MUTATION; SCHOOL CHILD; SURAL NERVE; TENDON REFLEX;

EID: 0036268776     PISSN: 12107859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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