Whole exome sequencing reveals DYSF, FKTN, and ISPD mutations in congenital muscular dystrophy without brain or eye involvement

Journal of Neuromuscular Diseases

Volumn 2, Issue 1, 2015, Pages 87-92

  Ceyhan Birsoy, Ozge ^a   Talim, Beril ^b   Swanson, Lindsay C ^a   Karakaya, Mert ^b   Graff, Michelle A ^a   Beggs, Alan H ^a   Topaloglu, Haluk ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

DYSF protein human; Dysferlinopathy; FKTN protein human; Genetic testing; ISPD protein human; Muscular dystrophies; Neuromuscular diseases

Indexed keywords

ALPHA DYSTROGLYCAN; DYSFERLIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DYSF GENE; FEMALE; FKTN GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; ISPD GENE; MALE; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SCHOOL CHILD; WHOLE EXOME SEQUENCING;

EID: 84947025682     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-140038     Document Type: Article

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