Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment

Neuromuscular Disorders

Volumn 23, Issue 4, 2013, Pages 298-305

  Chen, Tai Heng ^a   Lai, Yu Hung ^a,b   Lee, Pei Lun ^a   Hsu, Jong Hau ^a,b   Goto, Kanako ^c   Hayashi, Yukiko K ^c,d   Nishino, Ichizo ^c,d   Lin, Chin Wen ^a   Shih, Hsiang Hung ^a   Huang, Chao Ching ^e   Liang, Wen Chen ^a   Wang, Wen Fu ^f,g   Jong, Yuh Jyh ^a,b  

^a KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^e NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^f CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^g CENTRAL TAIWAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Taiwan)

Author keywords

Cardiac conductive defect; EcoRI fragment; Facioscapulohumeral muscular dystrophy; Infantile onset; Restrictive ventilatory defect

Indexed keywords

DNA FRAGMENT; ECORI FRAGMENT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BREATHING DISORDER; CHILD; CHRONIC RESPIRATORY FAILURE; CLINICAL ARTICLE; DYSPHAGIA; EPILEPSY; FACIAL EXPRESSION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GASTROSTOMY; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HUMAN; INFANTILE FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; INFANTILE SPASM; MALE; MENTAL DEFICIENCY; ONSET AGE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; WEAKNESS; WHEELCHAIR;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CHILD; CHROMOSOMES, HUMAN, PAIR 4; COHORT STUDIES; DEOXYRIBONUCLEASE ECORI; EPILEPSY; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; HEARING LOSS, SENSORINEURAL; HEART BLOCK; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84874952705     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.01.005     Document Type: Article

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