Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

Neurogenetics

Volumn 13, Issue 2, 2012, Pages 115-124

  Boyden, Steven E ^a,b   Mahoney, Lane J ^a   Kawahara, Genri ^a   Myers, Jennifer A ^a   Mitsuhashi, Satomi ^a,c   Estrella, Elicia A ^a   Duncan, Anna R ^a   Dey, Friederike ^a   DeChene, Elizabeth T ^a   Blasko Goehringer, Jessica M ^a   Bönnemann, Carsten G ^d   Darras, Basil T ^a   Mendell, Jerry R ^e   Lidov, Hart G W ^a   Nishino, Ichizo ^c   Beggs, Alan H ^a,b   Kunkel, Louis M ^a,b   Kang, Peter B ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

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

^e NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

Cleft palate; Congenital myopathy; Linkage analysis; MEGF10; Satellite cells; Whole genome sequencing

Indexed keywords

EPIDERMAL GROWTH FACTOR DERIVATIVE; MULTIPLE EPIDERMAL GROWTH FACTOR LIKE DOMAIN 10; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; FEMALE; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; JOINT CONTRACTURE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIMINICORE DISEASE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEAR FAMILY; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SCOLIOSIS; WEAKNESS;

ANIMALS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; SATELLITE CELLS, SKELETAL MUSCLE; ZEBRAFISH;

DANIO RERIO; MURINAE; VERTEBRATA;

EID: 84862704091     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0315-z     Document Type: Article

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