A novel insert mutation in γ-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy [8]

Journal of Neurology

Volumn 249, Issue 11, 2002, Pages 1608-1611

  Lin, S ^a   Ramelli, G P ^a   Moser, H ^a   Gallati, S ^a   Burgunder, J M ^a  

^a UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; SARCOGLYCAN;

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILDHOOD DISEASE; CLINICAL FEATURE; DISEASE COURSE; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; LABORATORY TEST; LETTER; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHROMOSOME DISORDERS; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DNA TRANSPOSABLE ELEMENTS; DYSTROPHIN; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; POINT MUTATION; SARCOGLYCANS;

EID: 18744390291     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-002-0873-3     Document Type: Letter

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