Expanding the importance of HMERF titinopathy : new mutations and clinical aspects

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Palmio , J , Leonard-Louis , S , Sacconi , S , Savarese , M , Penttilä , S , Semmler , A-L , Kress , W , Mozaffar , T , Lai , T , Stojkovic , T , Berardo , A , Reisin , R , Attarian , S , Urtizberea , A , Cobo , A M , Maggi , L , Kurbatov , S , Nikitin , S , Milisenda , J C , Fatehi , F , Raimondi , M , Silveira , F , Hackman , P , Claeys , K G & Udd , B 2019 , ' Expanding the importance of HMERF titinopathy : new mutations and clinical aspects ' , Journal of Neurology , vol. 266 , no. 3 , pp. 680-690 . https://doi.org/10.1007/s00415-019-09187-2

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, Andres; Reisin, Ricardo; Attarian, Shahram; Urtizberea, Andoni; Cobo, Ana Maria; Maggi, Lorenzo; Kurbatov, Sergei; Nikitin, Sergei; Milisenda, Jose C.; Fatehi, Farzad; Raimondi, Monika; Silveira, Fernando; Hackman, Peter; Claeys, Kristl G.; Udd, Bjarne
Contributor organization: Medicum
Department of Medical and Clinical Genetics
University of Helsinki
Date: 2019-03
Language: eng
Number of pages: 11
Belongs to series: Journal of Neurology
ISSN: 0340-5354
DOI: https://doi.org/10.1007/s00415-019-09187-2
URI: http://hdl.handle.net/10138/300259
Abstract: ObjectiveHereditary 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.MethodsAltogether 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.ResultsThree 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.ConclusionsOur 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.
Subject: Hereditary myopathy
Respiratory failure
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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