Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

Muscle and Nerve

Volumn 20, Issue 1, 1997, Pages 97-99

  Ionasescu, Victor V ^a   Searby, Charles C ^a   Ionasescu, Rebecca ^a   Chatkupt, Sansnee ^b   Patel, Nitin ^b   Koenigsberger, Richard ^b  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

Dejerine Sottas; inherited; mutation; PMP22

Indexed keywords

ASPARTIC ACID; GLYCINE; MYELIN PROTEIN;

AMINO ACID SUBSTITUTION; AREFLEXIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAM; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOTOR DEVELOPMENT; MOTOR NERVE CONDUCTION; MUSCLE HYPOTONIA; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; VERTICAL TRANSMISSION;

ADULT; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MUTATION; MYELIN PROTEINS; PEDIGREE;

EID: 0031032932     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199701)20:1<97::AID-MUS13>3.0.CO;2-Z     Document Type: Article

References (9)

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