Hereditary myopathy with early respiratory failure (HMERF) : Still rare but common enough

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Tasca , G & Udd , B 2018 , ' Hereditary myopathy with early respiratory failure (HMERF) : Still rare but common enough ' , Neuromuscular Disorders , vol. 28 , no. 3 , pp. 268-276 . https://doi.org/10.1016/j.nmd.2017.12.002

Title: Hereditary myopathy with early respiratory failure (HMERF) : Still rare but common enough
Author: Tasca, Giorgio; Udd, Bjarne
Contributor: University of Helsinki, Medicum
Date: 2018-03
Language: eng
Number of pages: 9
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
URI: http://hdl.handle.net/10138/302054
Abstract: Phenotypic and genetic/allelic heterogeneity is a feature of many neuromuscular disorders, titinopathies being one of them. Hereditary Myopathy with Early Respiratory Failure (HMERF) has been considered an extremely rare disease with definite clinicopathologic hallmarks, and geographically restricted to the Northern European population with one single titin gene defect identified in previous years. The recent availability of massive parallel sequencing techniques, allowing the screening of all coding regions of the genome in undiagnosed patients, together with a growing awareness of the main muscle MRI features of the disease, has led to the discovery of a number of HMERF families and new titin mutations in the last five years. We reviewed the clinical, pathological and muscle imaging findings that are still cornerstones for the diagnosis of this disease, as well as the most recent molecular genetic findings. HMERF is more common and geographically widespread than previously expected, and the knowledge of the whole phenotypic and molecular spectrum of HMERF can increase the number of diagnosed patients considerably. (C) 2017 Elsevier B.V. All rights reserved.
Subject: Hereditary myopathy with early respiratory failure
HMERF
Cytoplasmic body
Titin
Titinopathy
CYTOPLASMIC BODY MYOPATHY
AUTOSOMAL-DOMINANT MYOPATHY
FN3 119 DOMAIN
A-BAND TITIN
MUSCLE INVOLVEMENT
MYOFIBRILLAR MYOPATHIES
MUSCULAR-DYSTROPHIES
PROTEIN-TURNOVER
DISEASE ALLELE
KINASE DOMAIN
3112 Neurosciences
3124 Neurology and psychiatry
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