Report of a novel mutation in the PMP22 gene causing an axonal neuropathy

Muscle and Nerve

Volumn 43, Issue 4, 2011, Pages 605-609

  Gess, Burkhard ^a   Jeibmann, Astrid ^a   Schirmacher, Anja ^a   Kleffner, Ilka ^a   Schilling, Matthias ^a   Young, Peter ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; MYELIN PROTEIN; PMP22 PROTEIN, HUMAN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AXONAL NEUROPATHY; CASE REPORT; CONTROLLED STUDY; DEMYELINATING DISEASE; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; NEUROPATHY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; CHILD; GENETICS; MIDDLE AGED; MUTATION; NERVE FIBER; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; POLYNEUROPATHY; VERY ELDERLY;

AGED, 80 AND OVER; AXONS; CHILD; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN PROTEINS; PEDIGREE; POLYNEUROPATHIES;

EID: 79953054406     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21973     Document Type: Article

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