A Small In-Frame Deletion Within the Protease Domain of Muscle-Specific Calpain, p94 Causes Early-Qnset Limb-Girdle Muscular Dystrophy 2A

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Häffner, Karsten ^a   Speer, Astrid ^b   Hübner, Christoph ^a   Voita, Thomas ^c   Oexle, Konrad ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b Xchnische Fachhochschule Berlin   (Germany)

^c Kinderklinik Uniuersität Essen ^*  (Germany)

Author keywords

LGMD2A; mRNA; Myopathy; Splicing; Stop codon

Indexed keywords

CALPAIN; CALPAIN 3; DNA; PROTEINASE; CYSTEINE PROTEINASE; MESSENGER RNA;

ADOLESCENT; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CASE REPORT; CHEMISTRY; CHILD; FAMILY HEALTH; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; METABOLISM; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; POINT MUTATION; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE; PRIORITY JOURNAL; PROTEIN DOMAIN; TISSUE SPECIFICITY;

ADOLESCENT; AGE OF ONSET; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BINDING SITES; CALPAIN; CHILD; DNA; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASES; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUSCULAR DYSTROPHIES; POINT MUTATION; READING FRAMES; SEQUENCE DELETION;

EID: 0032246535     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110193     Document Type: Article

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