Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome

Neuropediatrics

Volumn 39, Issue 1, 2008, Pages 33-38

  Auer Grumbach, M ^a,b   Fischer, C ^a   Papic L ^a   John, E ^a   Plecko, B ^a   Bittner, R E ^b   Bernert, G ^b   Pieber, T R ^a   Miltenberger, G ^c   Schwarz, R ^d   Windpassinger, C ^a   Grill, F ^e   Timmerman, V ^f   Speicher, M R ^a   Janecke, A R ^c  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d KEPLER UNIVERSITY HOSPITAL   (Austria)

^e Orthopaedic Hospital of Vienna   (Austria)

^f UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

AR CMT; Early onset peripheral neuropathy; GDAP1; PRX

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRODIAGNOSIS; ELECTROPHYSIOLOGY; GDAP1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PRX GENE;

AGE OF ONSET; ATAXIA; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DEMYELINATING DISEASES; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUSCLE WEAKNESS; MUTATION; NERVE TISSUE PROTEINS; PERIPHERAL NERVES; SENSATION DISORDERS; SYNDROME;

EID: 45149133307     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1077085     Document Type: Article

References (18)

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