The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

Neuromuscular Disorders

Volumn 14, Issue 2, 2004, Pages 147-157

  Züchner, Stephan ^a   Vorgerd, Matthias ^b   Sindern, Eckhart ^b   Schröder, J Michael ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Charcot Marie Tooth; Glu397Lys; Neurofilament light gene mutation; Peripheral neuropathy

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; CONTROLLED STUDY; ELECTRON MICROSCOPY; FAMILIAL DISEASE; FEMALE; FOOT MALFORMATION; GENE IDENTIFICATION; GENE MUTATION; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; LEG MUSCLE; MALE; MICROSCOPY; MOTOR NERVE; MUSCLE WEAKNESS; MYELINATED NERVE; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER; NEUROFILAMENT; NEUROPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SIGNAL TRANSDUCTION; SURAL NERVE;

EID: 0347090624     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2003.10.003     Document Type: Article

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