A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy

Neurology

Volumn 84, Issue 24, 2015, Pages 2430-2437

  Li, Xiaobo ^a,b   Hu, Zhengmao ^b   Liu, Lei ^a   Xie, Yongzhi ^a   Zhan, Yajing ^a   Zi, Xiaohong ^a   Wang, Junling ^b   Wu, Lixiang ^b   Xia, Kun ^b   Tang, Beisha ^b   Zhang, Ruxu ^a  

^a THE THIRD XIANGYA HOSPITAL OF CENTRAL SOUTH UNIVERSITY   (China)

^b Central South University   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEASOME INHIBITOR; SIGMA 1 OPIATE RECEPTOR; RNA SPLICING; SIGMA OPIATE RECEPTOR; SIGMA-1 RECEPTOR;

ADULT; ALTERNATIVE RNA SPLICING; APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASE PAIRING; CASE REPORT; CELL NUCLEUS; CHINESE; CHROMOSOME 9P; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; ENDOPLASMIC RETICULUM STRESS; EXOME; EXON; FAMILY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEK293 CELL LINE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IN FRAME DELETION; LEUKOCYTE; MALE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA ANALYSIS; SIBLING; SIGMAR1 GENE; SPLICE SITE MUTATION; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; GENETICS; HAND; LEG; MUTATION; PATHOLOGY; PHYSIOLOGY; RECESSIVE GENE; RNA SPLICING; SPINAL MUSCULAR ATROPHY;

APOPTOSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; ENDOPLASMIC RETICULUM STRESS; FAMILY; FEMALE; GENES, RECESSIVE; HAND; HEK293 CELLS; HUMANS; LEG; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; RECEPTORS, SIGMA; RNA SPLICE SITES;

EID: 84931079265     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001680     Document Type: Article

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