Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  McLaughlin, Heather M ^a,b   Kelly, Melissa A ^b   Hawley, Pamela P ^c   Darras, Basil T ^c,d   Funke, Birgit ^a,b,e   Picker, Jonathan ^c,d  

^a Laboratory for Molecular Medicine   (United States)

^b LABORATORY FOR MOLECULAR MEDICINE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Clinical genetics; Desminopathy; Dilated cardiomyopathy; Genetic testing; Myopathy

Indexed keywords

DESMIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; RECESSIVE DESMINOPATHY; RECESSIVE INHERITANCE; RESPIRATORY FAILURE; SEQUENCE ANALYSIS;

ADULT; BASE SEQUENCE; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; DESMIN; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84879816929     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-68     Document Type: Article

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