Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

Human Genetics

Volumn 104, Issue 3, 1999, Pages 249-253

  Tanner, S M ^c   ORstavik K H ^a   Kristiansen, M ^a   Lev, D ^b   Lerman Sagie, T ^b   Sadeh, M ^b   Liechti Gallati, S ^d  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b WOLFSON MEDICAL CENTER   (Israel)

^c OHIO STATE UNIVERSITY   (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CHROMOSOME XQ; CONTROLLED STUDY; FACE MUSCLE; FAMILY HISTORY; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; INHERITANCE; MUSCLE DISEASE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM; X CHROMOSOME INACTIVATION;

EID: 0032908834     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050943     Document Type: Article

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