A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

Journal of the Peripheral Nervous System

Volumn 17, Issue 2, 2012, Pages 201-205

  Rossor, Alexander M ^a   Davidson, Gabrielle L ^a   Blake, Julian ^b,c   Polke, James M ^a   Murphy, Sinéad M ^a   Houlden, Henry ^a   Innes, Amy ^a   Kalmar, Bernadett ^a   Greensmith, Linda ^a   Reilly, Mary M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

^c NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; Distal hereditary motor neuropathy; HSP27 heat shock proteins

Indexed keywords

HEAT SHOCK PROTEIN 27;

ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; ELECTROMYOGRAPHY; EXON; FEMALE; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEG CRAMP; MALE; MUSCLE WEAKNESS; NERVE POTENTIAL; NONSENSE MUTATION; PRIORITY JOURNAL; SIBLING; STOP CODON;

ADULT; AGED; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CODON, NONSENSE; FEMALE; HSP27 HEAT-SHOCK PROTEINS; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PROTEIN STRUCTURE, QUATERNARY;

EID: 84863469415     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00400.x     Document Type: Article

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