A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

European Journal of Human Genetics

Volumn 18, Issue 6, 2010, Pages 636-641

  Bisceglia, Luigi ^a   Zoccolella, Stefano ^b   Torraco, Alessandra ^c,d   Piemontese, Maria Rosaria ^a   Dell'Aglio, Rosa ^c   Amati, Angela ^c   De Bonis, Patrizia ^a   Artuso, Lucia ^c   Copetti, Massimiliano ^a   Santorelli, Filippo Maria ^d   Serlenga, Luigi ^e   Zelante, Leopoldo ^a   Bertini, Enrico ^d   Petruzzella, Vittoria ^c,f  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b Ospedali Riuniti di Foggia   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e Operative Unit of Neurology L Bonomo Hospital   (Italy)

^f CNR   (Italy)

Author keywords

Autosomal dominant limb girdle muscular dystrophy; Chromosome 3; Linkage analysis; Multiple mtDNA deletions

Indexed keywords

CREATINE KINASE; LACTIC ACID; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 3P; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GASTROCNEMIUS MUSCLE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LACTATE BLOOD LEVEL; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MICROSATELLITE MARKER; MITOCHONDRION; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; ONSET AGE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; CHILD; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; FAMILY; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PEDIGREE; YOUNG ADULT;

EID: 77952670370     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.235     Document Type: Article

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