AI Article Synopsis
- Nemaline myopathy is a complex skeletal muscle disorder marked by the presence of nemaline bodies and typically leads to muscle weakness, starting in the proximal muscles and later affecting distal muscles, including those for facial and respiratory functions.
- The case study highlights a 65-year-old woman with a progressive form of this condition, experiencing both respiratory and heart failure due to two identified variants in the nebulin gene, one of which is a new mutation.
- The report emphasizes the importance of assessing the pathogenicity of this novel variant and its potential link to the patient's clinical symptoms, particularly regarding cardiac complications.
Article Abstract
Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later also distal muscle weakness, mostly involving facial and respiratory muscle. Cardiac involvement has been rarely observed especially in nebulin-related nemaline myopathy and there have been only two reports about nebulin-related nemaline myopathy patients with cardiac involvement. We present here the case of a 65-year-old woman manifesting slowly progressive distal myopathy with respiratory and heart failure. She harbored two variants in the nebulin gene, c.20131C > T (p.Arg6711Trp) and c.674C > T (p.Pro225Leu), and one of them, c.674C > T, was a novel variant. In this report, we discuss the pathogenicity of the novel variant and its association with clinical phenotypes including cardiac involvement.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479285 | PMC |
| http://dx.doi.org/10.1016/j.ensci.2020.100268 | DOI Listing |
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