Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy

Journal of Neurology

Volumn 248, Issue 10, 2001, Pages 856-860

  Ishihara, Hiroyuki ^a   Kanda, Fumio ^a   Nishio, Hisahide ^b   Sumino, Kimiaki ^b   Chihara, Kazuo ^a  

^a KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KOBE UNIVERSITY   (Japan)

Author keywords

Androgen receptor gene; Female gene carrier; Skewed X chromosome inactivation; X linked spinal and bulbar muscular atrophy

Indexed keywords

ANDROGEN RECEPTOR; CREATINE KINASE;

ADULT; AGED; ARTICLE; BULBAR MUSCLE ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAM; FEMALE; GENOTYPE; HETEROZYGOTE; HUMAN; METHYLATION; MUSCLE ATROPHY; MUSCLE CRAMP; MUSCLE WEAKNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE; X CHROMOSOME RECESSIVE DISORDER;

ADULT; AGED; AGED, 80 AND OVER; DEOXYRIBONUCLEASE HPAII; DOSAGE COMPENSATION, GENETIC; ELECTROMYOGRAPHY; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; RECEPTORS, ANDROGEN; REPETITIVE SEQUENCES, NUCLEIC ACID; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; X CHROMOSOME;

EID: 0034793311     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150170069     Document Type: Article

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