Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Neuromuscular Disorders

Volumn 23, Issue 6, 2013, Pages 483-488

  Pierson, Tyler Mark ^a,b,c   Markello, Thomas ^a   Accardi, John ^a   Wolfe, Lynne ^a,b   Adams, David ^a   Sincan, Murat ^a   Tarazi, Noor M ^a   Fajardo, Karin Fuentes ^a   Cherukuri, Praveen F ^a   Bajraktari, Ilda ^b   Meilleur, Katy G ^b   Donkervoort, Sandra ^b   Jain, Mina ^b   Hu, Ying ^b   Lehky, Tanya J ^b   Cruz, Pedro ^a   Mullikin, James C ^a   Bonnemann, Carsten ^b   Gahl, William A ^a   Boerkoel, Cornelius F ^a   Tifft, Cynthia J ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Deletion analysis; EMARDD; Exome sequencing; MEGF10; Myopathy; SNP array

Indexed keywords

GENOMIC DNA;

ARTICLE; BIRTH WEIGHT; CASE REPORT; CHILD; CLINICAL FEATURE; COPY NUMBER VARIATION; DISEASE COURSE; DISEASE SEVERITY; DNA HYBRIDIZATION; DNA ISOLATION; EARLY ONSET MYOPATHY AREFLEXIA RESPIRATORY DISTRESS AND DYSPHAGIA; ELECTROPHYSIOLOGY; EXOME; FEMALE; FRAMESHIFT MUTATION; GASTROSTOMY; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MEGF10 GENE; MUSCLE BIOPSY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOPATHY; NERVE CONDUCTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SCOLIOSIS; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TRACHEOSTOMY; URINE INCONTINENCE;

CHILD; CHROMOSOME MAPPING; DEGLUTITION DISORDERS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RESPIRATION DISORDERS; SEQUENCE DELETION;

EID: 84878643262     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.01.013     Document Type: Article

References (14)

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