The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy

Journal of Clinical Neuroscience

Volumn 16, Issue 6, 2009, Pages 830-831

  Bhagavati, Satyakam ^a   Maccabee, Paul J ^a   Xu, Weimin ^a  

^a SUNY Downstate Medical Center   (United States)

Author keywords

Charcot Marie Tooth disease; Mutation; Neurofilament; Neuropathy

Indexed keywords

AMINO ACID; DNA; PROLINE;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; DEMYELINATING DISEASE; DEMYELINATING NEUROPATHY; DISEASE SEVERITY; DNA SEQUENCE; ELECTROPHYSIOLOGY; GENE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MULTIPLE AXONAL NEUROPATHY; NEFL GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AXONS; CHARCOT-MARIE-TOOTH DISEASE; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; ELECTRODIAGNOSIS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; NEURAL CONDUCTION; NEUROFILAMENT PROTEINS; PERIPHERAL NERVES; PHENOTYPE; PROLINE; SERINE;

EID: 67349148980     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2008.08.030     Document Type: Article

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