Prenatal diagnosis of X-linked myotubular myopathy

Prenatal Diagnosis

Volumn 30, Issue 2, 2010, Pages 177-179

  Chen, Chih Ping ^a,b,c,d   Lin, Shuan Pei ^a   Chern, Schu Rern ^a   Tsai, Fuu Jen ^c,e   Wang, Tao Yeuan ^a   Lin, Hung Hung ^a   Wang, Wayseen ^a,f  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^f TATUNG UNIVERSITY   (Taiwan)

Author keywords

Fetal imaging; Fetal ultrasound; General cytogenetics; Genetic counselling; MTM1; Prenatal cytogenetics; Single gene disorders; X linked myotubular myopathy

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; FETUS ECHOGRAPHY; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFANT; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; PREGNANCY OUTCOME; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADULT; AMNIOCENTESIS; FEMALE; GENETIC COUNSELING; GESTATIONAL AGE; HUMANS; KARYOTYPING; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PREGNANCY;

EID: 75649142139     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2432     Document Type: Article

References (11)

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