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Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)
Department of Pathology, Göteborg Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pathology, Göteborg Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID iD: 0000-0001-8854-5213
Department of Pediatrics, Göteborg Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pediatrics, Göteborg Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.
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2004 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 14, no 8-9, 471-475 p.Article in journal (Refereed) Published
Abstract [en]

Nemaline myopathy has been associated with mutations in five different genes, which all encode protein components of the sarcomeric thin filaments. We report follow-up studies in two children with mutations not previously described in skeletal muscle alpha-actin (ACTA1). Case 1 was a male patient who after birth suffered from pronounced muscle weakness and hypotonia. Muscle biopsy showed small fibers with numerous rods. He failed to achieve any motor milestones. At the age of 17 he required 24 h ventilator support. He could not lift his arms against gravity, but he could use his hands to control his electric wheelchair. The muscle biopsy showed marked replacement of muscle tissue by fat and connective tissue. Only few fibers showed nemaline rods. He had a de novo, heterozygous mutation, G268D in ACTA1. Case 2 was a female patient with feeding difficulties and mild hypotonia in the neonatal period. Muscle biopsy showed hypoplastic muscle fibers and numerous rods. At 11 years of age she walked and moved unhindered and could run fairly well. She had a de novo, heterozygous mutation, K373E, in ACTA1. These two patients illustrate the marked variability in the clinical features of nemaline myopathy in spite of similar muscle pathology in early childhood. The severe muscle atrophy with replacement of fat and connective tissue in case 1 demonstrates the progressive nature of nemaline myopathy in some cases. The described two mutations add to the previously reported mutations in ACTA1 associated with nemaline myopathy.

Place, publisher, year, edition, pages
Elsevier, 2004. Vol. 14, no 8-9, 471-475 p.
National Category
Neurology
Research subject
Medical sciences
Identifiers
URN: urn:nbn:se:his:diva-11981DOI: 10.1016/j.nmd.2004.05.016ISI: 000223437000004PubMedID: 15336687ScopusID: 2-s2.0-4344703840OAI: oai:DiVA.org:his-11981DiVA: diva2:907134
Available from: 2016-02-26 Created: 2016-02-26 Last updated: 2016-03-08Bibliographically approved

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Tajsharghi, Homa
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