Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Neuromuscular Disorders

Volumn 24, Issue 11, 2014, Pages 978-981

  Grunseich, Christopher ^a   Kats, Ilona R ^a   Bott, Laura C ^a,b   Rinaldi, Carlo ^a   Kokkinis, Angela ^a   Fox, Derrick ^a   Chen, Ke lian ^a   Schindler, Alice B ^a   Mankodi, Ami K ^a   Shrader, Joseph A ^c   Schwartz, Daniel P ^a   Lehky, Tanya J ^a   Liu, Chia Ying ^c   Fischbeck, Kenneth H ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b KAROLINSKA INSTITUTE   (Sweden)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Androgen receptor; Genetics; Kennedy's disease; Motor neuron disease; Spinal bulbar muscular atrophy

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; ANDROGEN RECEPTOR GENE; ARTICLE; AUTONOMIC DYSFUNCTION; CAG REPEAT; CASE REPORT; CLINICAL FEATURE; DISORDER OF SEX DEVELOPMENT; GENE MUTATION; HUMAN; KENNEDY DISEASE; MALE; MUSCLE STRENGTH; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; SWEAT GLAND DISEASE; COMPLICATION; GENETICS; MUSCLE ATROPHY; NERVE FIBER; PATHOLOGY; TRINUCLEOTIDE REPEAT;

ADULT; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE WEAKNESS; MUSCULAR DISORDERS, ATROPHIC; NERVE FIBERS; RECEPTORS, ANDROGEN; TRINUCLEOTIDE REPEATS;

EID: 84922289414     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.06.441     Document Type: Article

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