Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia

Clinical Genetics

Volumn 85, Issue 2, 2014, Pages 166-171

  Maselli, R A ^a   Arredondo, J ^a   Nguyen, J ^a   Lara, M ^a   Ng, F ^a   Ngo, M ^a   Pham, J M ^a   Yi, Q ^b   Stajich, J M ^c   Mcdonald, K ^d   Hauser, M A ^d   Wollmann, R L ^e  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY OF CHICAGO   (United States)

Author keywords

Congenital myasthenic syndromes; GFPT1; Limb girdle myasthenia; Neuromuscular junction; Whole exome sequencing

Indexed keywords

NUCLEOTIDE; 3,4-DIAMINOPYRIDINE; 4 AMINOPYRIDINE; GFPT1 PROTEIN, HUMAN; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; NEOSTIGMINE;

3' UNTRANSLATED REGION; ARTICLE; CODON; EMBRYO; EXOME; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIMB GIRDLE MYASTHENIA; LIMB WEAKNESS; MINIATURE ENDPLATE POTENTIAL; MUSCLE BIOPSY; MYASTHENIA; NERVE ENDING; NEUROMUSCULAR TRANSMISSION; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; AGED; ANALOGS AND DERIVATIVES; CASE REPORT; ELECTROMYOGRAPHY; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; MYASTHENIA GRAVIS; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ULTRASTRUCTURE;

4-AMINOPYRIDINE; AGED; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; EXOME; FEMALE; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR SEQUENCE DATA; MYASTHENIA GRAVIS; MYASTHENIC SYNDROMES, CONGENITAL; NEOSTIGMINE; NEUROMUSCULAR JUNCTION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84892485363     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12118     Document Type: Article

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