Centronuclear Myopathies
نویسندگان
چکیده
منابع مشابه
Respiratory assessment in centronuclear myopathies.
The centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders classified as congenital myopathies. While several causative genes have been identified, some patients do not harbor any of the currently known mutations. These diverse disorders have common histological features, which include a high proportion of centrally nucleated muscle fibers, and clinical attributes of m...
متن کاملPathogenic Mechanisms in Centronuclear Myopathies
Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the most prominent histopathological feature. The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive mutations in the MTM1 gene encoding myotubu...
متن کاملX-linked myotubular and centronuclear myopathies.
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent internalized or centrally placed nuclei. Early workers suggested that this alteration represented an arrest in myofiber maturation,...
متن کاملINFORMATIONS The myotubularin - amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
The constructs pEGFP BIN1 full length (isoform 8, 454 aa) and pEGFP BAR+PI (aa 1-281) were obtained from P. De Camilli (Yale University, New York). cDNA corresponding to MTM1 sequence (603 aa) was cloned into pEGFP-C1 (Clontech, N-ter GFP fusion) by PCR amplification followed by BamH1 restriction and into pCS2+ vector ([1], untagged). cDNA corresponding to the full length, BAR+PI, BAR (aa 1-255...
متن کاملThe myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Myotubularin (MTM1) and amphiphysin 2 (BIN1) are two proteins mutated in different forms of centronuclear myopathy, but the functional and pathological relationship between these two proteins was unknown. Here, we identified MTM1 as a novel binding partner of BIN1, both in vitro and endogenously in skeletal muscle. Moreover, MTM1 enhances BIN1-mediated membrane tubulation, depending on binding ...
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ژورنال
عنوان ژورنال: Seminars in Pediatric Neurology
سال: 2011
ISSN: 1071-9091
DOI: 10.1016/j.spen.2011.10.006