Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type v

Journal of the Peripheral Nervous System

Volumn 17, Issue 4, 2012, Pages 418-421

  Lee, Hye Jin ^a   Park, Jin ^b   Nakhro, Khriezanou ^a   Park, Jin Mo ^b   Hur, Yoon Mi ^c   Choi, Byung Ok ^b   Chung, Ki Wha ^a  

^a Kongju National University   (South Korea)

^b Mokdong Hospital   (South Korea)

^c Mokpo National University   (South Korea)

Author keywords

Charcot Marie Tooth disease; dHMN; exome; glycyl tRNA synthetase; Korean; mutation

Indexed keywords

GLYCINE TRANSFER RNA LIGASE;

ADULT; ARTICLE; CASE REPORT; CATALYSIS; DISTAL HEREDITARY MOTOR NEUROPATHY TYPE V; EXOME; GASTROCNEMIUS MUSCLE; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE WEAKNESS; NERVE POTENTIAL; NEUROLOGIC EXAMINATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SENSORY NERVE CONDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TENDON REFLEX; TIBIALIS ANTERIOR MUSCLE; WILD TYPE;

ADULT; AGE OF ONSET; BRACHIAL PLEXUS NEURITIS; CHARCOT-MARIE-TOOTH DISEASE; ELECTRODIAGNOSIS; FEMALE; GAIT DISORDERS, NEUROLOGIC; GLYCINE-TRNA LIGASE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; KOREA; MIDDLE AGED; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84872869235     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00442.x     Document Type: Article

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