A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin

Neuromuscular Disorders

Volumn 14, Issue 3, 2004, Pages 229-232

  Kochanski, A ^a   Drac, H ^a,b   Kabzinska D ^a   Hausmanowa Petrusewicz, I ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Charcot Marie Tooth type 1B disease; Myelin protein zero

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; DEMYELINATING NEUROPATHY; EXON; GENE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MYELIN PROTEIN ZERO GENE; NERVE BIOPSY; PRIORITY JOURNAL; PROTEIN FOLDING; SURAL NERVE;

EID: 1242316358     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2003.12.001     Document Type: Article

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