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Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID iD: 0000-0001-8854-5213
Department of Internal Medicine, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Neurology, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
2007 (English)In: Archives of Neurology, ISSN 0003-9942, E-ISSN 1538-3687, Vol. 64, no 9, 1334-1338 p.Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.

PATIENTS: A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness. They had weakness in both proximal and distal muscles and facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, and micrognathia.

RESULTS: Muscle biopsy specimens in the mother at age 57 years had shown nemaline myopathy, whereas a biopsy specimen at age 32 years had demonstrated no rods. Muscle biopsy specimens in the daughter at age 26 years had shown features of cap disease and no apparent nemaline rods. A missense mutation, Glu41Lys, in the beta-tropomyosin gene TPM2 was identified in both patients but was absent in their healthy relatives.

CONCLUSIONS: The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance. These disorders may thus be phenotypic variants of the same genetic defect.

Place, publisher, year, edition, pages
American Medical Association , 2007. Vol. 64, no 9, 1334-1338 p.
National Category
Neurology
Research subject
Medical sciences
Identifiers
URN: urn:nbn:se:his:diva-11966DOI: 10.1001/archneur.64.9.1334ISI: 000249342400017PubMedID: 17846275Scopus ID: 2-s2.0-34548650911OAI: oai:DiVA.org:his-11966DiVA: diva2:907001
Available from: 2016-02-25 Created: 2016-02-25 Last updated: 2016-02-25Bibliographically approved

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CiteExportLink to record
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