An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)

Journal of Neurology Neurosurgery and Psychiatry

Volumn 69, Issue 6, 2000, Pages 806-811

  Misu, K ^a   Sobue, G ^a   Yoshihara, T ^a   Shikama, Y ^b   Awaki, E ^c   Yamamoto, M ^a   Hattori, N ^a   Hirayama, M ^a   Takegami, T ^d   Nakashima, K ^e  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Yamagata Prefectural Kahoku Hospital   (Japan)

^c Saiseikai Sakaiminato General Hospital   (Japan)

^d Tajimi Municipal Hospital   (Japan)

^e TOTTORI UNIVERSITY   (Japan)

Author keywords

Adie's pupil; Charcot Marie Tooth disease type II; Myelin protein zero

Indexed keywords

ASPARTIC ACID; CREATINE KINASE; METHIONINE; MYELIN PROTEIN; MYELIN PROTEIN ZERO; THREONINE; UNCLASSIFIED DRUG; VALINE;

ADIE SYNDROME; ARTICLE; CLINICAL FEATURE; DISEASE CLASSIFICATION; ENZYME BLOOD LEVEL; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NERVE FIBER GROWTH; NERVE POTENTIAL; ONSET AGE; PRIORITY JOURNAL; SURAL NERVE;

ADULT; AXONS; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; NEURAL CONDUCTION; PEDIGREE; SURAL NERVE;

EID: 0033645778     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.69.6.806     Document Type: Article

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