Novel diagnostic features of dysferlinopathies

Muscle and Nerve

Volumn 42, Issue 1, 2010, Pages 14-21

  Rosales, Xiomara Q ^a,b,c   Gastier Foster, Julie M ^a,c   Lewis, Sarah ^a,b   Vinod, Malik ^a,b   Thrush, Devon L ^a,c   Astbury, Caroline ^a,c   Pyatt, Robert ^a,c   Reshmi, Shalini ^a,c   Sahenk, Zarife ^a,b,c   Mendell, Jerry R ^a,b,c  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

Amyloid; Calf myopathy; Dysferlin; LGMD2B; Muscular dystrophy

Indexed keywords

AMYLOID; DYSFERLIN; GENOMIC DNA;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; CHILD; CLINICAL ARTICLE; DELTOID MUSCLE; DIAGNOSTIC APPROACH ROUTE; DYSF GENE; DYSFERLINOPATHY; FEMALE; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; IMMUNOFLUORESCENCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE HYPERTROPHY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; WESTERN BLOTTING;

ADOLESCENT; ADULT; AMYLOID; BIOPSY; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, DIRECT; HUMANS; IMMUNOHISTOCHEMISTRY; LEG; MALE; MEMBRANE PROTEINS; MONOCYTES; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 77954117345     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21650     Document Type: Article

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