Pii: S0960-8966(02)00014-7
نویسندگان
چکیده
We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complained of muscle weakness. The oldest sister showed clinical signs consistent with facioscapulohumeral muscular dystrophy, confirmed through molecular analysis. She presented a 30 kb EcoRI/BlnI fragment which was found in another six relatives, but surprisingly not in the affected proband or the other sister. In the second family, a 57-year-old male with a typical facioscapulohumeral muscular dystrophy phenotype has a 17 kb EcoRI/BlnI fragment, which was also present in other affected relatives. However in a 14-year-old severely affected male cousin, confined to a wheelchair since age 12, but without facial weakness, the small fragment was absent. These families illustrate the importance of testing all affected individuals in a family. q 2002 Elsevier Science B.V. All rights reserved.
منابع مشابه
Pii: S0960-8966(02)00089-5
Previous studies on transgenic mice indicate that upregulation of utrophin protein may offer a potential treatment strategy for Duchenne muscular dystrophy. We have analyzed the effect of the glucocorticoid 6a-methylprednisolone-21 sodium succinate on utrophin protein levels using a cell-based assay with differentiated human myotubes derived from biopsies of healthy individuals or Duchenne musc...
متن کاملPii: S0960-8966(02)00117-7
The exogenous delivery of growth factors and cytokines is a potential therapeutic strategy to alleviate the degenerative effects of primary inherited myopathies such as Duchenne muscular dystrophy. The mdx mouse diaphragm is a model for examining the progressive degeneration of dystrophic muscle. We have delivered leukaemia inhibitory factor to the mdx diaphragm using slow release alginate gels...
متن کاملPii: S0960-8966(99)00060-7
Effects of the antiarrhythmic and antimyotonic drug mexiletine were studied on two sodium channel mutants causing paramyotonia congenita (R1448H) and an overlap paramyotonic and hyperkalemic paralytic syndrome (M1360V). Channels were expressed in human embryonic kidney cells and studied electrophysiologically, using the whole-cell patch-clamp technique. Compared to the wild-type, channel, both ...
متن کاملIntracellular signalling: Turning down G-protein signals
The recently discovered family of proteins known as 'regulators of G-protein signalling' offers a solution to an important puzzle about the termination of signalling by G proteins and may also be important in more long-term modulation of signalling via G proteins.
متن کامل