Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: A clinical and molecular study of 30 families

Neuromuscular Disorders

Volumn 10, Issue 6, 2000, Pages 391-397

  Mariotti, Caterina ^a   Castellotti, Barbara ^a   Pareyson, Davide ^a   Testa, Daniela ^a   Eoli, Marica ^a   Antozzi, Carlo ^a   Silani, Vincenzo ^b   Marconi, Roberto ^c   Tezzon, Frediano ^d   Siciliano, Gabriele ^e   Marchini, Corrado ^f   Gellera, Cinzia ^a   Di Donato, Stefano ^a  

^a National Neurological Institute   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c Grosseto Hospital   (Italy)

^d Hospital of Verona   (Italy)

^e Dept of Clin Microbiol Lab   (Italy)

^f UNIVERSITY HOSPITAL OF UDINE   (Italy)

Author keywords

Heterozygous females; Motor neuron disease; Triplet repeat; X linked spinal and bulbar muscle atrophy

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DENERVATION; DISEASE SEVERITY; FEMALE; HETEROZYGOSITY; HUMAN; KENNEDY DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MOTOR NEURON DISEASE; MUSCLE WEAKNESS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE; TRINUCLEOTIDE REPEAT;

ACTION POTENTIALS; ADULT; AGE OF ONSET; AGED; ALLELES; CREATINE KINASE; FASCICULATION; FEMALE; GONADAL STEROID HORMONES; GONADOTROPINS, PITUITARY; GYNECOMASTIA; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; HYPESTHESIA; ITALY; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR ATROPHY, SPINAL; PENETRANCE; PHENOTYPE; RECEPTORS, ANDROGEN; SEQUENCE ANALYSIS, DNA; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0034255678     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00132-7     Document Type: Article

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