Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 567-572

  McPherson, Elizabeth ^a   Turner, Lesley ^b   Zador, Ivan ^a   Reynolds, Kara ^a   Macgregor, David ^b   Giampietro, Philip F ^a  

^a MARSHFIELD CLINIC   (United States)

^b MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Cardiomyopathy; Lamin A; Lipodystrophy; Malouf syndrome; Premature ovarian failure; Progeroid syndrome

Indexed keywords

ALENDRONIC ACID; ARGININE; FOLLITROPIN; LAMIN A; LEUCINE;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; CONGESTIVE CARDIOMYOPATHY; EXON; FAMILIAL PARTIAL LIPODYSTROPHY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE SEQUENCE; GENOTYPE; HUMAN; HYPOGONADISM; MISSENSE MUTATION; MUSCULAR DYSTROPHY; MYOPATHY; OSTEOPOROSIS; OVARY INSUFFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PROGERIA; RETROGNATHIA; WERNER SYNDROME;

ADOLESCENT; AMINO ACID SUBSTITUTION; CARDIOMYOPATHY, DILATED; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY; MUTATION, MISSENSE; OVARIAN FAILURE, PREMATURE; PHENOTYPE; SYNDROME; WERNER SYNDROME;

EID: 63749130030     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32627     Document Type: Article

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