Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene

Proceedings of the National Academy of Sciences of the United States of America

Volumn 97, Issue 26, 2000, Pages 14614-14619

  Martinsson, Tommy ^a   Oldfors, Anders ^a   Darin, Niklas ^a   Berg, Kerstin ^a   Tajsharghi, Homa ^a   Kyllerman, Mårten ^a   Wahlström, Jan ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN HEAVY CHAIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 17P; CONTROLLED STUDY; ELECTRON MICROSCOPY; ENZYME HISTOCHEMISTRY; EXON; GENE CLUSTER; GENE MAPPING; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATION; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; ANIMALS; CHILD; FEMALE; GENETIC DISEASES, INBORN; GLUTAMIC ACID; HUMANS; LYSINE; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MOLECULAR STRUCTURE; MUSCULAR DISEASES; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; MYOSINS; NADH TETRAZOLIUM REDUCTASE; PEDIGREE; STAINING AND LABELING;

EID: 0034687697     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.250289597     Document Type: Article

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