Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22

Acta Neuropathologica

Volumn 99, Issue 3, 2000, Pages 327-330

  Ohnishi, Akio ^a   Yamamoto, Tatsunori ^a   Izawa, Katsuhiko ^b   Yamamori, Shunji ^b   Takahashi, Keiichi ^c   Mega, Haruyuki ^c   Jinnai, Kenji ^c  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^b LSI MEDIENCE CORPORATION   (Japan)

^c Japan   (Japan)

Author keywords

De novo mutation; Dejerine Sottas disease; Onion bulb; Peripheral myelin protein 22 (PMP22); Point mutation

Indexed keywords

MYELIN PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; MOTOR DEVELOPMENT; MOTOR NERVE CONDUCTION; MUSCLE WEAKNESS; MYELIN SHEATH; MYELINATED NERVE; NERVE BIOPSY; POINT MUTATION; PRIORITY JOURNAL; SCOLIOSIS; SENSORY DYSFUNCTION; SENSORY NERVE CONDUCTION; SURAL NERVE; WALKING;

EID: 0033954062     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00007446     Document Type: Article

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