A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression

Muscle and Nerve

Volumn 38, Issue 2, 2008, Pages 1055-1059

  Magot, Armelle ^a   Latour, Philippe ^b   Mussini, Jean Marie ^a   Mourtada, Reda ^c   Guiheneuc, Pierre ^a   Pereon, Yann ^a  

^a HÔTEL DIEU   (France)

^b HÔPITAL DEBROUSSE   (France)

^c PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

Acute nerve compression; Charcot Marie Tooth disease; Demyelinating neuropathy; MPZ

Indexed keywords

MYELIN PROTEIN; PERIPHERAL MYELIN PROTEIN 22;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEMYELINATING NEUROPATHY; EXON; FEMALE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY TYPE 1; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; MALE; MUTATIONAL ANALYSIS; MYELIN PROTEIN ZERO GENE; NERVE COMPRESSION; NEUROPATHY; NONSENSE MUTATION; NUCLEOTIDE REPEAT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECURRENT DISEASE;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; NERVE COMPRESSION SYNDROMES; NEURAL CONDUCTION; PHENOTYPE; TYROSINE;

EID: 49449089115     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21050     Document Type: Article

References (10)

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