Two is better than one: A case of homozygous myotonic dystrophy type 1

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1763-1767

  Carroll, Jillian M ^a   Quaid, Kimberly A ^b   Stone, Kristyne ^b   Jones, Renee ^c   Schubert, Frank ^b   Griffith, Christopher B ^b  

^a INDIANA UNIVERSITY   (United States)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Ariosa Diagnostics   (United States)

Author keywords

Congenital myotonic dystrophy; DMPK; Homozygous; Myotonic dystrophy; Trinucleotide repeat expansion

Indexed keywords

AIRWAY OBSTRUCTION; ALLELE; AMNION FLUID ANALYSIS; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD DEVELOPMENT; CHRONIC RESPIRATORY FAILURE; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DISEASE ACTIVITY; DISEASE SEVERITY; ENTERIC FEEDING; EYE JAUNDICE; FAMILY HISTORY; FEEDING DISORDER; GASTROESOPHAGEAL REFLUX; GENETIC SCREENING; HUMAN; HYDROCEPHALUS; HYPOVENTILATION; HYPOXIA; INFANT; MALE; MONOZYGOTIC TWINS; MUSCLE HYPOTONIA; MYOTONIC DYSTROPHY; NOSE FEEDING; NYSTAGMUS; ORCHIDOPEXY; OXYGEN THERAPY; PARENTERAL NUTRITION; PRIORITY JOURNAL; SLEEP DISORDERED BREATHING; STOMACH MOTILITY; STOMACH PARESIS; TRACHEOSTOMY; TREATMENT DURATION; TRINUCLEOTIDE REPEAT;

3' UNTRANSLATED REGIONS; ALLELES; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDROCEPHALUS; INFANT; MYOTONIC DYSTROPHY; SIBLINGS; TRACHEOSTOMY; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84879461541     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35967     Document Type: Article

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