A Novel Mutation in DMD (c.1079715G.A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability

Journal of Developmental and Behavioral Pediatrics

Volumn 37, Issue 3, 2016, Pages 239-244

  Banihani, Rudaina ^a,b   Baskin, Berivan ^c   Halliday, William ^d   Kobayashi, Jeff ^d   Kawamura, Anne ^a,b   McAdam, Laura ^a,b   Ray, Peter N ^d,e   Yoon, Grace ^d  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOLLAND BLOORVIEW KIDS REHABILITATION HOSPITAL   (Canada)

^c UPPSALA UNIVERSITY   (Sweden)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Becker muscular dystrophy (BMD); DMD; Dp71 isoform; dystrophin; intellectual disability

Indexed keywords

DMD PROTEIN, HUMAN; DYSTROPHIN;

ADOLESCENT; CASE REPORT; DUCHENNE MUSCULAR DYSTROPHY; GENETICS; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MUTATION;

ADOLESCENT; DYSTROPHIN; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION;

EID: 84963526764     PISSN: 0196206X     EISSN: 15367312     Source Type: Journal    
DOI: 10.1097/DBP.0000000000000262     Document Type: Article

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