Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

Archives of Neurology

Volumn 60, Issue 4, 2003, Pages 598-604

  Birouk, Nazha ^a,c   Azzedine, Hamid ^b   Dubourg, Odile ^b   Muriel, Marie Paule ^b   Benomar, Ali ^a   Hamadouche, Tarik ^b   Maisonobe, Thierry ^b   Ouazzani, Reda ^a   Brice, Alexis ^b   Yahyaoui, Mohamed ^a   Chkili, Taïb ^a   Le Guern, Eric ^b  

^a IBN SINA HOSPITAL   (Morocco)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c Al Irfane   (Morocco)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 8Q; CLINICAL FEATURE; CONSANGUINITY; ELECTROPHYSIOLOGY; FOOT MALFORMATION; GDAP1 GENE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; LEG MUSCLE; MOROCCO; MOTOR NERVE CONDUCTION; NERVE BIOPSY; NERVE POTENTIAL; NERVE REGENERATION; NEUROPATHY; PERONEUS NERVE; PHENOTYPE; PRIORITY JOURNAL; SENSORY NERVE; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; LOD SCORE; MALE; MOROCCO; MUTATION; PEDIGREE; PHENOTYPE; SERINE;

EID: 0345316694     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.4.598     Document Type: Article

References (34)

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