Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

Neuromuscular Disorders

Volumn 15, Issue 11, 2005, Pages 764-767

  Mikesova E ^a   Huhne K ^b   Rautenstrauss, B ^b   Mazanec, R ^a   Barankova L ^a   Vyhnalek M ^a   Horacek O ^a   Seeman, P ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Arg359GIn; Charcot Marie Tooth Disease; EGR2; HMSN Type I; Peripheral neuropathy

Indexed keywords

EARLY GROWTH RESPONSE 2 PROTEIN; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CODON; CONTROLLED STUDY; CRANIAL NEUROPATHY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS;

ADOLESCENT; ARGININE; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GLUTAMINE; HUMANS; MALE; MUTATION; NEURAL CONDUCTION; NEUROLOGIC EXAMINATION; PERIPHERAL NERVES; SCOLIOSIS; TRANS-ACTIVATORS;

EID: 26944494555     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2005.08.001     Document Type: Article

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