Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation

Neurogenetics

Volumn 13, Issue 4, 2012, Pages 359-365

  Tokunaga, Shoko ^a   Hashiguchi, Akihiro ^a   Yoshimura, Akiko ^a   Maeda, Kengo ^b   Suzuki, Takashi ^c   Haruki, Hiroyo ^d   Nakamura, Tomonori ^a   Okamoto, Yuji ^a   Takashima, Hiroshi ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b Higashi ohmi General Medical Center   (Japan)

^c Joetsu General Hospital   (Japan)

^d YAMAGUCHI UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Adult onset; Charcot Marie Tooth disease; Demyelinating neuropathy; Periaxin gene mutation

Indexed keywords

ASPARTIC ACID;

ADULT; AGED; AREFLEXIA; ARTICLE; CASE REPORT; DEMYELINATING NEUROPATHY; DEMYELINATION; ELECTROPHYSIOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HOARSENESS; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MEDIAN NERVE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MYELIN SHEATH; MYELINATED NERVE; NERVE BIOPSY; NERVE POTENTIAL; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; ONSET AGE; PERIAXIN GENE; PHENOTYPE; POLIOMYELITIS; PRIORITY JOURNAL; SCOLIOSIS; SENSORY DYSFUNCTION; SENSORY NERVE CONDUCTION; SURAL NERVE; TIBIAL NERVE; VOCAL CORD PARALYSIS; WALKING DIFFICULTY;

AGE OF ONSET; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; SEVERITY OF ILLNESS INDEX;

EID: 84868300437     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0338-5     Document Type: Article

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