Different phenotypes of Charcot-Marie-Tooth disease caused by mutations in the same gene. Are classical criteria for classification still valid?;Diferentes fenotipos del síndrome de Charcot-Marie-Tooth causados por mutaciones del mismo gen: ¿Siguen siendo útiles los criterios de clasificación clásicos?

Neurologia

Volumn 19, Issue 5, 2004, Pages 264-271

  Sevilla, T ^a   Vilchez J J ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

CMT; CMT2E; GDAP1 mutations; MPZ mutations; Neurofilament light mutations

Indexed keywords

ALLELISM; CMT1 GENE; CMT2 GENE; DEMYELINATION; DISEASE CLASSIFICATION; GADP1 GENE; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR GENETICS; MPZ GENE; NERVE CONDUCTION; NERVE FIBER; NEUROPATHY; NEUROPHYSIOLOGY; NF L GENE; PERIPHERAL NERVE; PHENOTYPE; REVIEW; SCHWANN CELL; VALIDATION PROCESS; X CHROMOSOME INACTIVATION;

CARRIER PROTEINS; CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; HUMANS; MUTATION; MYELIN P0 PROTEIN; NERVE TISSUE PROTEINS; NEUROFILAMENT PROTEINS; PHENOTYPE;

EID: 3042667877     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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