Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy

Journal of Neurogenetics

Volumn 25, Issue 4, 2011, Pages 182-188

  Haberlova J ^a   Mazanec, R ^a   Ridzon P ^a   Barankova L ^a   Nurnberg G ^b   Nurnberg P ^b   Sticht, H ^c   Huehne, K ^d   Seeman, P ^a   Rautenstrauss, B ^e,f  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b ATLAS BIOLABS GMBH   (Germany)

^c Institut Fr Biochemie and Emil Fischer Zentrum   (Germany)

^d UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^e Medizinisch Genetisches Zentrum   (Germany)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

CMT; DNM2; Dynamin 2; Peripheral neuropathy

Indexed keywords

DYNAMIN I; DYNAMIN II;

ADOLESCENT; ADULT; ARTICLE; CATARACT; CHROMOSOME 19P; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CZECH REPUBLIC; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYDROPHOBICITY; MISSENSE MUTATION; MOLECULAR MODEL; MOTOR NERVE CONDUCTION; MUTATIONAL ANALYSIS; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NEUTROPENIA; PEDIGREE ANALYSIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURE ANALYSIS; SYMPTOM;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CZECHOSLOVAKIA; DYNAMIN II; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 81555212320     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677063.2011.627484     Document Type: Article

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