Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology

Neuromuscular Disorders

Volumn 23, Issue 4, 2013, Pages 337-344

  Lim, Byung Chan ^a   Lee, Seungbok ^b   Shin, Jong Yeon ^b   Hwang, Hee ^a   Kim, Ki Joong ^a   Hwang, Yong Seung ^a   Seo, Jeong Sun ^b,c,e   Kim, Jong Il ^b,d,e   Chae, Jong Hee ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Seoul National University   (South Korea)

^c Macrogen Inc   (South Korea)

^d Psoma Therapeutics Inc   (South Korea)

^e Seoul National University College of Medicine   (South Korea)

Author keywords

Alpha dystroglycan; Congenital muscular dystrophy; Targeted resequencing

Indexed keywords

ALPHA DYSTROGLYCAN;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FKRP GENE; FKTN GENE; GENE MUTATION; GENETIC PROCEDURES; GLYCOSYLATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LARGE GENE; MOLECULAR DIAGNOSIS; MUSCULAR DYSTROPHY; NEXT GENERATION SEQUENCING TECHNOLOGY; POMGNT1 GENE; POMT2 GENE; PRIORITY JOURNAL; RETROPOSON;

CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PROTEINS; SEQUENCE ANALYSIS, DNA; WALKER-WARBURG SYNDROME;

EID: 84874995441     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.01.007     Document Type: Article

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