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10.3389/fneur.2018.00303 http://scihub22266oqcxt.onion/10.3389/fneur.2018.00303 C5941986!5941986!29770119     free     free     free       Front+Neurol 2018 ; 9 (ä): ä Nephropedia Template TP {{tp|p=29770119|t=2018. Core Clinical Phenotypes in Myotonic Dystrophies |pdf=|usr=}}{{29770119}} gab.com Text Core Clinical Phenotypes in Myotonic Dystrophies JO: Front Neurol http://www.kidney.de/pget.php?&tw=1&pmid=29770119 #FOAvip Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled ?Beyond Borders: Myotonic Dystrophies?A European Perception.? Twit Text FOAVip Core Clinical Phenotypes in Myotonic Dystrophies ????Front Neurol http://www.kidney.de/pget.php?&tw=1&pmid=29770119 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29770119 #FOAvip English Wikipedia <ref>{{Cite pmid|29770119}}</ref> Core Clinical Phenotypes in Myotonic Dystrophies #MMPMID29770119 Wenninger S; Montagnese F; Schoser B Front Neurol 2018[]; 9 (ä): ä PMID29770119show ga Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled ?Beyond Borders: Myotonic Dystrophies?A European Perception.? äCore Clinical Phenotypes in Myotonic Dystrophies (epmc).pdf DeepDyve Pubget Overpricing