Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

Neurology

Volumn 66, Issue 5, 2006, Pages 752-754

  Del Bo, R ^a   Locatelli, F ^a   Corti, S ^a   Scarlato, M ^a   Ghezzi, S ^a   Prelle, A ^a   Fagiolari, G ^a   Moggio, M ^a   Carpo, M ^a   Bresolin, N ^b   Comi, G P ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLYCINE TRANSFER RNA LIGASE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DISABILITY; ELECTROMYOGRAPHY; FAMILY STUDY; FEMALE; GARS GENE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ITALY; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; NERVE BIOPSY; NERVE CONDUCTION; NEUROPATHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SURAL NERVE; CASE REPORT; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE;

ADOLESCENT; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GLYCINE-TRNA LIGASE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 33645884424     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000201275.18875.ac     Document Type: Article

References (8)

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