A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 2, 2004, Pages 262-265

  Santoro, L ^a   Manganelli, F ^a   Di Maria, E ^b   Bordo, D ^c   Cassandrini, D ^b   Ajmar, F ^b   Mandich, P ^b   Bellone, E ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; ASPARTYLGLUTAMIC ACID; DIPEPTIDE; GLUTAMIC ACID; MUTANT PROTEIN; MYELIN PROTEIN; TETRAMER;

ADULT; AGED; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 17; CLINICAL FEATURE; CODON; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INSTRUMENTATION; ITALY; LABORATORY TEST; MALE; NERVE FIBER; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; SKELETAL MUSCLE;

EID: 0842287606     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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