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Title: Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Author: Palmio, Johanna
Leonard-Louis, Sarah
Sacconi, Sabrina
Savarese, Marco
Penttilä, Sini
Semmler, Anna‑Lena
Kress, Wolfram
Mozaffar, Tahseen
Lai, Tim
Stojkovic, Tanya
Berardo, Andrés
Reisin, Ricardo
Attarian, Shahram
Urtizberea, Andoni
Cobo, Ana Maria
Maggi, Lorenzo
Kurbatov, Sergei
Nikitin, Sergei
Milisenda, José
Fatehi, Farzad
Raimondi, Monika
Silveira, Fernando
Hackman, Peter
Claeys, Kristl G.
Udd, Bjarne
Keywords: Malalties musculars
Insuficiència respiratòria
Distròfia muscular
Muscular Diseases
Respiratory insufficiency
Muscular dystrophy
Issue Date: 1-Mar-2019
Publisher: Springer Verlag
Abstract: Objective: Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied. Methods: Altogether 12 new families with 19 affected patients and diverse nationalities were studied. Most of the patients were investigated using targeted next-generation sequencing; Sanger sequencing was applied in some of the patients and available family members. Histological data and muscle MRI findings were evaluated. Results: Three families had several family members studied while the rest were single patients. Most patients had distal and proximal muscle weakness together with respiratory insufficiency. Five heterozygous TTN A-band mutations were identified of which two were novel. Also with the novel mutations the muscle pathology and imaging findings were compatible with the previous reports of HMERF. Conclusions: Our collection of 12 new families expands mutational spectrum with two new mutations identified. HMERF is not that rare and can be found worldwide, but maybe underdiagnosed. Diagnostic process seems to be complex as this study shows with mostly single patients without clear dominant family history. Keywords: Hereditary myopathy; Respiratory failure; Titin; Titinopathy, mutations.
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It is part of: Journal of Neurology, 2019, vol. 266, num. 3, p. 680-690
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ISSN: 0340-5354
Appears in Collections:Articles publicats en revistes (Medicina)

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