Variable phenotypes are associated with PMP22 missense mutations

Neuromuscular Disorders

Volumn 21, Issue 2, 2011, Pages 106-114

  Russo, M ^a,b   Laura M ^a   Polke, J M ^c   Davis, M B ^c   Blake, J ^a,d   Brandner, S ^a   Hughes, R A C ^a   Houlden, H ^a   Bennett, D L H ^e   Lunn, M P T ^a   Reilly, M M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MESSINA   (Italy)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; HNPP; PMP22

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NERVE BIOPSY; PARALYSIS; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; SENSORY SYSTEM ELECTROPHYSIOLOGY;

ADULT; AGED; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYELIN PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; SURAL NERVE;

EID: 78751584739     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.11.011     Document Type: Article

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