Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

European Journal of Paediatric Neurology

Volumn 12, Issue 5, 2008, Pages 427-430

  Madej Pilarczyk, Agnieszka ^a   Kmieć, Tomasz ^b   Fidziańska, Anna ^a   Rekawek, Joanna ^b   Niebrój Dobosz, Irena ^a   Turska Kmieć, Anna ^b   Nestorowicz, Klaudia ^a   Jóźwiak, Sergiusz ^b   Hausmanowa Petrusewicz, Irena ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Hutchinson Gilford progeria; Lamin A C; LMNA

Indexed keywords

LAMIN A; LAMIN C;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HEART ATRIUM FIBRILLATION; HETEROZYGOTE; HUMAN; LMNA GENE; MALE; MYOPATHY; POINT MUTATION; PRIORITY JOURNAL; PROGERIA;

ATRIAL FIBRILLATION; CARDIOMYOPATHIES; CELL NUCLEUS; CHILD; COMORBIDITY; CONTRACTURE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC SCREENING; HUMANS; JOINT DISEASES; LAMIN TYPE A; MYOCARDIUM; POINT MUTATION; PROGERIA; REFLEX, ABNORMAL;

EID: 48549090482     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2007.11.011     Document Type: Article

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