A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

Journal of Neurology

Volumn 259, Issue 8, 2012, Pages 1585-1589

  Marttila, Maria ^a,b   Rautenstrauss, Bernd ^c   Huehne, Kathrin ^d   Laitinen, Virpi ^e,f   Majamaa, Kari ^a,b   Kärppä, Mikko ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^e UNIVERSITY OF TURKU   (Finland)

^f TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Charcot Marie Tooth disease; MPZ; P0; Peripheral polyneuropathy

Indexed keywords

ARGININE; CYSTEINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; MYELIN PROTEIN; THREONINE; THYROXINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ASTHMA; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CYANOCOBALAMIN DEFICIENCY; DEMYELINATING DISEASE; DIAGNOSTIC TEST; DISEASE SEVERITY; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; FAMILY; FEMALE; FINLAND; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GERMANY; GLAUCOMA; HEART INFARCTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HYPERCHOLESTEROLEMIA; HYPOTHYROIDISM; ISCHEMIC HEART DISEASE; LIMB PARESTHESIA; LIMB WEAKNESS; MALE; MOTOR NEUROPATHY; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PARESTHESIA; PNEUMATOCELE; POLYMERASE CHAIN REACTION; POLYNEUROPATHY; PRIORITY JOURNAL; SEMI STRUCTURED INTERVIEW; SENSORY NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID CANCER; THYROIDECTOMY; WALKING DIFFICULTY;

AGED; ALLELES; AXONS; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; PEDIGREE;

EID: 84861830039     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6382-5     Document Type: Article

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