A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult. (July 2018)

• Record Type: Journal Article
• Authors: Kao, Justin C.; Liewluck, Teerin; Milone, Margherita
• Is Part Of: Journal of clinical neuroscience. Volume 53(2018)
• Page Start: 261
• Page End: 262
• Publication Date: 2018-07
• Subjects: ACTA1 -- Nemaline myopathy -- Sporadic late onset nemaline myopathy -- SLONM; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2018.04.044
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: We present an adult patient with nemaline myopathy due to a novel ACTA1 variant. Clinical history is crucial in differentiating nemaline myopathies in adulthood. Myopathological findings distinguish congenital from acquired nemaline myopathy. Abstract: We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic late-onset nemaline myopathy (SLONM), which is a treatable acquired muscle disease often associated with monoclonal gammopathy or HIV infection. Both congenital NM and SLONM are characterized by the presence of nemaline rods in muscle. The patient's clinical history of difficulty running since childhood and weakness in other family members favored a congenital NM. The type 1 fiber atrophy and clusters of rods in normal size muscle fibers supported the diagnosis of congenital NM and prompted genetic molecular testing, which led to discovery of the novel ACTA1 variant causative of the myopathy.