Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

Wenzel, Katrin; Carl, Miriam; Perrot, Andreas; Zabojszcza, Joanna; Assadi, Maziar; Ebeling, Martin; Geier, Christian; Robinson, Peter N; Kress, Wolfram; Osterziel, Karl-Josef; Spuler, Simone

Wenzel, Katrin; Carl, Miriam; Perrot, Andreas; Zabojszcza, Joanna; Assadi, Maziar; Ebeling, Martin; Geier, Christian; Robinson, Peter N; Kress, Wolfram; Osterziel, Karl-Josef; Spuler, Simone.

Affiliation

Wenzel K; Department of Cardiology, Franz Volhard Clinic, Helios Clinic, Berlin, Germany.

Hum Mutat ; 27(6): 599-600, 2006 Jun.

Article in En | MEDLINE | ID: mdl-16705711

Subject(s)

Membrane Proteins/chemistry; Membrane Proteins/genetics; Muscle Proteins/chemistry; Muscle Proteins/genetics; Muscular Dystrophies/genetics; Mutation; Adult; Amino Acid Sequence; DNA Mutational Analysis; Dysferlin; Female; Heterozygote; Homozygote; Humans; Male; Membrane Proteins/deficiency; Models, Molecular; Molecular Sequence Data; Muscle Proteins/deficiency; Muscle, Skeletal/pathology; Muscular Dystrophies/diagnosis; Pedigree; Protein Folding; Protein Structure, Tertiary; RNA Splice Sites; RNA Stability; RNA, Messenger/metabolism; Sequence Alignment

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Database: MEDLINE Main subject: Membrane Proteins / Muscle Proteins / Muscular Dystrophies / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Year: 2006 Type: Article

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