X inactivation in females with X-linked Charcot-Marie-Tooth disease

Neuromuscular Disorders

Volumn 22, Issue 7, 2012, Pages 617-621

  Murphy, Sinéad M ^a,b   Ovens, Richard ^a   Polke, James ^a   Siskind, Carly E ^c   Laurà, Matilde ^a   Bull, Karen ^a   Ramdharry, Gita ^a   Houlden, Henry ^a   Murphy, Raymond P J ^b   Shy, Michael E ^c   Reilly, Mary M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Charcot Marie Tooth disease; Connexin32; GJB1; X inactivation

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; AGED; ARTICLE; ASSAY; BLOOD ANALYSIS; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHWANN CELL; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, X; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MUTATION; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 84862210198     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.02.009     Document Type: Article

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