Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling

Neuromuscular Disorders

Volumn 20, Issue 5, 2010, Pages 340-342

  Quercia, Nada ^a   Somers, Gino R ^a   Halliday, William ^a   Kantor, Paul F ^a   Banwell, Brenda ^a   Yoon, Grace ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Cardiomyopathy; Frataxin; Friedreich ataxia; Sudden death

Indexed keywords

AMOXICILLIN; MEMBRANE PROTEIN; PROTEIN FXN; UNCLASSIFIED DRUG;

ANOREXIA; ARTICLE; CASE REPORT; CHILD; COLD; COUGHING; FEMALE; FEVER; FLU LIKE SYNDROME; FRIEDREICH ATAXIA; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SUDDEN DEATH; UNCONSCIOUSNESS; VOMITING;

CHILD; CHILD, PRESCHOOL; COUNSELING; DEATH, SUDDEN, CARDIAC; FEMALE; FRIEDREICH ATAXIA; GANGLIA, SPINAL; HUMANS; IRON-BINDING PROTEINS; MALE; SIBLINGS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 77952008605     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.02.019     Document Type: Article

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