Exome sequencing identifies DYNC1H1 variant associated with vertebral abnormality and spinal muscular atrophy with lower extremity predominance

Pediatric Neurology

Volumn 52, Issue 2, 2015, Pages 239-244

  Punetha, Jaya ^a,b   Monges, Soledad ^c   Franchi, Maria Emilia ^c   Hoffman, Eric P ^a,b   Cirak, Sebahattin ^b   Tesi Rocha, Carolina ^b,d  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^d STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Charcot Marie Tooth; distal spinal muscular atrophy; dSMA; DYNC1H1; SMA LED; spinal muscular atrophy with lower extremity predominance; whole exome sequencing

Indexed keywords

CYTOPLASMIC DYNEIN; SURVIVAL MOTOR NEURON PROTEIN 1; DYNC1H1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; DYNC1H1 GENE; EXOME; EXOME SEQUENCING; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MEDICAL HISTORY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NERVE CONDUCTION; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPINAL MUSCULAR ATROPHY; VAGINAL DELIVERY; WALKING; COMPLICATION; GENETICS; LEG MALFORMATION; MUTATION;

CHILD, PRESCHOOL; CYTOPLASMIC DYNEINS; FEMALE; HUMANS; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MUSCULAR ATROPHY, SPINAL; MUTATION;

EID: 84922793541     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.09.003     Document Type: Article

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