A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype

Muscle and Nerve

Volumn 36, Issue 6, 2007, Pages 828-832

  Maioli, Maria Antonietta ^a   Marrosu, Giovanni ^a   Mateddu, Anna ^a   Solla, Elisabetta ^a   Carboni, Nicola ^a   Tacconi, Paolo ^b   Lai, Carlo ^b   Marrosu, Maria Giovanna ^a,b  

^a Binaghi Hospital   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

Atrioventricular block; Lamin A C; Laminopathy; LMNA; Rigid spine

Indexed keywords

DNA; LAMIN A; LAMIN C;

ADULT; ARTICLE; ARTIFICIAL HEART PACEMAKER; CLINICAL ARTICLE; CONTROLLED STUDY; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; FEMALE; GENE DELETION; GENE MUTATION; HEART CONDUCTION; HUMAN; MALE; MUSCLE CONTRACTURE; MUSCLE RIGIDITY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CONTRACTURE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HEART CONDUCTION SYSTEM; HEART DISEASES; HUMANS; INFANT; LAMIN TYPE A; MALE; MIDDLE AGED; MUSCLE RIGIDITY; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; MYOCARDIUM; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY;

EID: 37049031243     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20879     Document Type: Article

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