Dejerine-Sottas disease with sensorineural hearing Ioss3 nystagmus^ and peripheral facial nerve weakness: De novo dominant point mutation of the PMP22 gene

Journal of Medical Genetics

Volumn 33, Issue 12, 1996, Pages 1048-1049

  Ionasescu, V V ^a   Searby, C ^a   Greenberg, S A ^b  

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

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Dejerine sottas disease; PMP22 gene; Point mutation

Indexed keywords

LEUCINE; MYELIN PROTEIN; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL PROLIFERATION; DEMYELINATION; EXON; FACIAL NERVE; FAMILY HISTORY; FEMALE; FIBROSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MOLECULAR GENETICS; NERVE BIOPSY; NERVE FIBER; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; SCHWANN CELL; SURAL NERVE; WHEELCHAIR;

ADULT; FACIAL NERVE; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MYELIN PROTEINS; NYSTAGMUS, PATHOLOGIC; PERIPHERAL NERVOUS SYSTEM DISEASES; POINT MUTATION;

EID: 0030452124     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

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