Refine
Has Fulltext
- no (43)
Year of publication
Document Type
- Article (43) (remove)
Is part of the Bibliography
- yes (43)
Institute
Myofibrillar myopathy (MFM) is a human disease that is characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of MFM, we identified a cosegregating, heterozygous nonsense mutation (8130G -> A; W2710X) in the filamin c gene ( FLNC) on chromosome 7q32.1. The mutation is the first found in FLNC and is localized in the dimerization domain of filamin c. Functional studies showed that, in the truncated mutant protein, this domain has a disturbed secondary structure that leads to the inability to dimerize properly. As a consequence of this malfunction, the muscle fibers of our patients display massive cytoplasmic aggregates containing filamin c and several Z-disk-associated and sarcolemmal proteins
Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32
(1998)
C-terminally deleted fragments of 40-kDa earthworm actin modulator still shows gelsolin activities
(1997)
Calpain 1-gamma filamin interaction in muscle cells : a possible in situ regulation by PKC-alpha
(2006)