Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS

Journal of the Peripheral Nervous System

Volumn 17, Issue 1, 2012, Pages 132-134

  Eskuri, Jamie M ^a   Stanley, Christine M ^b   Moore, Steven A ^a,c   Mathews, Katherine D ^a,c  

^a UNIVERSITY OF IOWA   (United States)

^b ATHENA DIAGNOSTICS INC   (United States)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

Anticodon binding domain; CMT2D; dSMA V; GARS; Glycine aminoacyl tRNA synthetase

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE;

ANAMNESIS; ANTICODON; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GARS GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MONOZYGOTIC TWINS; MUSCLE BIOPSY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ANTICODON; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GLYCINE-TRNA LIGASE; HUMANS; INFANT; MUTATION; POLYMERASE CHAIN REACTION; TWINS, MONOZYGOTIC;

EID: 84859413990     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00370.x     Document Type: Article

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