New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype

Muscle and Nerve

Volumn 35, Issue 5, 2007, Pages 667-669

  Floroskufi, Paraskewi ^a   Panas, Marios ^a   Karadima, Georgia ^a   Vassilopoulos, Demetris ^a  

^a NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

Author keywords

Charcot Marie Tooth disease; CMT1B; Dejerine Sottas disease; Hereditary neuropathy; MPZ; Myelin protein zero

Indexed keywords

ISOLEUCINE; MYELIN PROTEIN; THREONINE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE; GENE DISRUPTION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; MPZ GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; ISOLEUCINE; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYELIN P0 PROTEIN; PEDIGREE; PHENOTYPE; THREONINE;

EID: 34247639906     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20703     Document Type: Article

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