Novel mutations in three patients with LGMD2C with phenotypic differences

Pediatric Neurology

Volumn 30, Issue 4, 2004, Pages 291-294

  Vermeer, Sascha ^a   Verrips, Aad ^a   Willemsen, Michèl A A P ^a   Ter Laak, Henk J ^a   Ginjaar, Ieke B ^b   Hamel, Ben C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; SARCOGLYCAN;

AGE DISTRIBUTION; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DNA SEQUENCE; DYNAMIC EXERCISE; EXON; GAIT DISORDER; GASTROCNEMIUS MUSCLE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEG PAIN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOROCCO; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; TURKEY (REPUBLIC);

BIOPSY; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CODON, NONSENSE; CONSANGUINITY; CYTOSKELETAL PROTEINS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; EXONS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; NEUROLOGIC EXAMINATION; PHENOTYPE;

EID: 1842839964     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2003.11.006     Document Type: Article

References (14)

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