'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
| Autor: | Margherita Verardo, Claudio Bruno, Chiara Fiorillo, Maria Beatrice Chiarini Testa, Fabiana Fattori, Michela Catteruccia, Adele D'Amico, Enrico Bertini, Maria Giovanna Paglietti |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Nemaline myopathy Pectus carinatum Rod bodies TNNT1 Tropomyosin I Female Homozygote Humans Infant Muscle Skeletal Mutation Myopathies Nemaline Pedigree Phenotype Siblings Troponin I Nemaline Population 03 medical and health sciences 0302 clinical medicine medicine Missense mutation education Genetics (clinical) education.field_of_study Muscle biopsy medicine.diagnostic_test business.industry Muscle weakness Skeletal medicine.disease humanities 030104 developmental biology Neurology Pediatrics Perinatology and Child Health Failure to thrive Old Order Amish Muscle Myopathies Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular disorders : NMD. 29(10) |
| ISSN: | 1873-2364 |
| Popis: | Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures. |
| Databáze: | OpenAIRE |
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