How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

Human Mutation

Volumn 30, Issue 3, 2009, Pages

  Clemen, Christoph S ^a   Fischer, Dirk ^b,c   Reimann, Jens ^c   Eichinger, Ludwig ^a   Müller, Clemens R ^d   Müller, Harald D ^e   Goebel, Hans H ^e   Schröder, Rolf ^f  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^e UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^f UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Desmin; Desminopathy; Myofibrillar myopathy; Protein aggregate myopathy; Vacuolar myopathy

Indexed keywords

ASPARTIC ACID; DESMIN; GLUTAMINE; MESSENGER RNA; MUTANT PROTEIN; PROLINE;

ARTICLE; CELL NUCLEUS; CONTROLLED STUDY; DESMINOPATHY; FAMILY; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; MUSCLE BIOPSY; MUSCLE CELL; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN ASSEMBLY; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; PROTEIN METABOLISM; PROTEIN VARIANT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SERIAL ANALYSIS OF GENE EXPRESSION; SKELETAL MUSCLE; WILD TYPE;

BASE SEQUENCE; BLOTTING, WESTERN; DESMIN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE EXPRESSION; HUMANS; MALE; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 61649116676     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20941     Document Type: Article

References (14)

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