A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype

Annals of Neurology

Volumn 44, Issue 6, 1998, Pages 971-976

  Goldberg, Laura R ^a   Hausmanowa Petrusewicz, Irena ^b   Fidzianska, Anna ^b   Duggan, David J ^a   Steinberg, Lisa S ^a,c   Hoffman, Eric P ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^c UNIVERSITY OF MARYLAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DYSTROGLYCAN; DYSTROPHIN; MEROSIN; MUSCLE PROTEIN; MYOSIN; RNA; SARCOGLYCAN; UTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CHILD; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; X CHROMOSOME LINKED DISORDER;

EID: 0031736870     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440619     Document Type: Article

References (19)

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