Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF

Neuromuscular Disorders

Volumn 19, Issue 10, 2009, Pages 701-703

  Gerding, Wanda Maria ^a   Koetting, Judith ^a   Epplen, Jörg Thomas ^a   Neusch, Clemens ^b  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

CMT 1C; HMSN Type 1; LITAF; Mutation

Indexed keywords

GENOMIC DNA; LIPOPOLYSACCHARIDE INDUCED TUMOR NECROSIS FACTOR ALPHA; METHIONINE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CASE REPORT; DEMYELINATING NEUROPATHY; DNA EXTRACTION; EVOKED SOMATOSENSORY RESPONSE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; GERMANY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NERVE CONDUCTION; NERVE POTENTIAL; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PARESTHESIA; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AGE OF ONSET; CHARCOT-MARIE-TOOTH DISEASE; CHILD; DEMYELINATING DISEASES; DIAGNOSIS, DIFFERENTIAL; FAMILY; FEMALE; GERMANY; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE BLOCK; NEURAL CONDUCTION; NUCLEAR PROTEINS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 70349257316     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.05.006     Document Type: Article

References (8)

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