Journal article
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases
Neuromuscular disorders : NMD, Vol.30(1), pp.54-58
01/2020
DOI: 10.1016/j.nmd.2019.11.001
PMID: 31866162
Abstract
•Homozygous mutations on TPM3 gene can lead to mild presentations of congenital fiber type disproportion myopathy.•Dropped-head can be present in TPM3-related myopathies.•Aminoacid-polarity changes nearby actin-binding sites are predicted to cause muscle dysfunction.
Congenital fiber type disproportion (CFTD) is a rare congenital myopathy subtype defined by slow type 1 hypotrophy in the absence of any other major structural findings such as rods, central nuclei or cores. Dominant missense changes in slow alpha-tropomyosin coded by TPM3 gene are the main cause of the CFTD. There are only a few reports of recessive loss-of-function mutations in TPM3 causing severe Nemaline Myopathy and CFTD. We present two patients harboring TPM3 mutations. The first is a novel homozygous missense variant with a mild CFTD clinical phenotype inherited in a recessive fashion. The second is a previously reported heterozygous mutation presenting within pronounced early axial involvement and dropped head. This report expands the genotype-phenotype correlation in the TPM3 myopathy showing a recessive mutation causing a mild clinical phenotype and also shows that TPM3 mutations should be part of the investigation in patients with dropped head.
Details
- Title: Subtitle
- Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases
- Creators
- Cristiane Araújo Martins Moreno - Columbia UniversityEduardo de Paula Estephan - Universidade de São PauloAlan Fappi - Universidade de São PauloSoledad Monges - Garrahan HospitalFabiana Lubieniecki - Garrahan HospitalOsório Lopes Abath Neto - National Institutes of HealthUmbertina Conti Reed - Universidade de São PauloSandra Donkervoort - National Institutes of HealthMatthew B Harms - Columbia UniversityCarsten Bonnemann - National Institutes of HealthEdmar Zanoteli - Universidade de São Paulo
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.30(1), pp.54-58
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.nmd.2019.11.001
- PMID
- 31866162
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Language
- English
- Date published
- 01/2020
- Academic Unit
- Pathology
- Record Identifier
- 9984277459502771
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