The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease

Human Genetics

Volumn 106, Issue 5, 2000, Pages 482-491

  Odermatt, Alex ^a   Barton, Kimby ^b   Khanna, Vijay K ^b   Mathieu, Jean ^c   Escolar, Diana ^d   Kuntzer, Thierry ^e   Karpati, George ^f   MacLennan, David H ^b  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF TORONTO   (Canada)

^c Complexe Hospitalier de la Sagamie ^*  (Canada)

^d GEORGE WASHINGTON UNIVERSITY MEDICAL CENTER   (United States)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ARGININE; CALCIUM ION; CYSTEINE; CYTOSINE; LEUCINE; PROLINE; THYMINE; ADENOSINE TRIPHOSPHATASE (CALCIUM); PRIMER DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRODY DISEASE; CALCIUM TRANSPORT; CELL LINE; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FAMILY STUDY; FAST MUSCLE; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MUSCLE CRAMP; MUSCLE DISEASE; MUSCLE RELAXATION; MUSCLE STIFFNESS; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; SKELETAL MUSCLE; STOP CODON; AMINO ACID SEQUENCE; CASE REPORT; CONSANGUINITY; ENZYMOLOGY; FAST MUSCLE FIBER; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM-TRANSPORTING ATPASES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUSCLE FIBERS, FAST-TWITCH; MUSCULAR DISEASES; MUTATION; MUTATION, MISSENSE; PEDIGREE;

EID: 0033623915     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000297     Document Type: Article

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