Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.

Andrade, Raissa Coelho; Nevado, Julián; de Faria Domingues de Lima, Maria Angélica; Saad, Tânia; Moraes, Lucia; Chimelli, Leila; Lapunzina, Pablo; Vargas, Fernando Regla

Andrade, Raissa Coelho; Nevado, Julián; de Faria Domingues de Lima, Maria Angélica; Saad, Tânia; Moraes, Lucia; Chimelli, Leila; Lapunzina, Pablo; Vargas, Fernando Regla.

Affiliation

Andrade RC; Genetics Division, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.

Am J Med Genet A ; 164A(11): 2908-13, 2014 Nov.

Article in En | MEDLINE | ID: mdl-25124546

Subject(s)

Chromosomes, Human, Pair 6; Diabetes Mellitus/genetics; Muscular Dystrophies/diagnosis; Muscular Dystrophies/genetics; Uniparental Disomy; Adult; CpG Islands; DNA Methylation; DNA Mutational Analysis; Female; Genomic Imprinting; Genotype; Humans; Infant; Laminin/genetics; Male; Microsatellite Repeats; Mutation; Phenotype; Polymorphism, Single Nucleotide

Key words

6q24 segmental uniparental disomy; LAMA2; MDC1A; TNDM

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 6 / Uniparental Disomy / Diabetes Mellitus / Muscular Dystrophies Type of study: Prognostic_studies Limits: Adult / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: Brazil

Fulltext

XML

PubMed Links

Search on Google