Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations

Journal of the Peripheral Nervous System

Volumn 16, Issue 2, 2011, Pages 143-146

  Chung, Ki W ^a   Hyun, Young S ^a   Lee, Hae J ^a   Jung, Hwa Kyoung ^b   Koo, Heasoo ^b   Yoo, Jeong H ^b   Kim, Sang Beom ^c   Park, Chan I ^d   Kim, Han N ^a   Choi, Byung Ok ^b  

^a Kongju National University   (South Korea)

^b Ewha Womans University School of Medicine   (South Korea)

^c Kyung Hee University Hospital   (South Korea)

^d Yonsei University Wonju   (South Korea)

Author keywords

CMT disease; GDAP1; Mutation; Neuropathy; RI CMT

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DEMYELINATING NEUROPATHY; FEMALE; GDAP 1 GENE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; POINT MUTATION; PRESCHOOL CHILD; RECESSIVE GENE;

GDAP PROTEIN; NERVE PROTEIN;

CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; POINT MUTATION;

EID: 80054871638     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2011.00329.x     Document Type: Article

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