MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

Annals of Neurology

Volumn 79, Issue 3, 2016, Pages 419-427

  Albulym, Obaid M ^a,b   Kennerson, Marina L ^a,b,c   Harms, Matthew B ^d   Drew, Alexander P ^a,b   Siddell, Anna H ^a,b   Auer Grumbach, Michaela ^e   Pestronk, Alan ^d   Connolly, Anne ^d   Baloh, Robert H ^f   Zuchner, Stephan ^g   Reddel, Stephen W ^a,b,c   Nicholson, Garth A ^a,b,c  

^a ANZAC RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ANZAC Research Institute   (Australia)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

^f CEDARS SINAI MEDICAL CENTER   (United States)

^g UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENOMIC DNA; MORC2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AGED; ARTICLE; AUSTRALIAN; CHARCOT MARIE TOOTH DISEASE TYPE 2; CHROMOSOME 22Q; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC PROCEDURES; GENOTYPING TECHNIQUE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MORC2 GENE; PRIORITY JOURNAL; PYRAMIDAL SIGN; WHOLE EXOME SEQUENCING; AXON; CASE REPORT; GENETIC PREDISPOSITION; GENETICS; MUTATION; PATHOLOGY; PYRAMIDAL TRACT;

ADULT; AXONS; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PYRAMIDAL TRACTS; TRANSCRIPTION FACTORS;

EID: 84960431547     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24575     Document Type: Article

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