332710
{332710:8IFX8BJI}
1
vancouver
50
default
2082
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%228IFX8BJI%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Arbustini%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%201.35%3B%20%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%20style%3D%5C%22clear%3A%20left%3B%20%5C%22%3E%5Cn%20%20%20%20%3Cdiv%20class%3D%5C%22csl-left-margin%5C%22%20style%3D%5C%22float%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%5C%22%3E1.%3C%5C%2Fdiv%3E%3Cdiv%20class%3D%5C%22csl-right-inline%5C%22%20style%3D%5C%22margin%3A%200%20.4em%200%201.5em%3B%5C%22%3EArbustini%20E%2C%20Di%20Toro%20A%2C%20Giuliani%20L%2C%20Favalli%20V%2C%20Narula%20N%2C%20Grasso%20M.%20Cardiac%20Phenotypes%20in%20Hereditary%20Muscle%20Disorders.%20Journal%20of%20the%20American%20College%20of%20Cardiology%20%5BInternet%5D.%202018%20%5Bcited%202019%20Dec%2018%5D%3B72%2820%29%3A2485%26%23x2013%3B506.%20Available%20from%3A%20%3Ca%20class%3D%27zp-ItemURL%27%20href%3D%27https%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS073510971838584X%27%3Ehttps%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS073510971838584X%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%20%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Cardiac%20Phenotypes%20in%20Hereditary%20Muscle%20Disorders%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Eloisa%22%2C%22lastName%22%3A%22Arbustini%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alessandro%22%2C%22lastName%22%3A%22Di%20Toro%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lorenzo%22%2C%22lastName%22%3A%22Giuliani%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Valentina%22%2C%22lastName%22%3A%22Favalli%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nupoor%22%2C%22lastName%22%3A%22Narula%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maurizia%22%2C%22lastName%22%3A%22Grasso%22%7D%5D%2C%22abstractNote%22%3A%22Hereditary%20muscular%20diseases%20commonly%20involve%20the%20heart.%20Cardiac%20manifestations%20encompass%20a%20spectrum%20of%20phenotypes%2C%20including%20both%20cardiomyopathies%20and%20rhythm%20disorders.%20Common%20biomarkers%20suggesting%20cardiomuscular%20diseases%20include%20increased%20circulating%20creatine%20kinase%20and%5C%2For%20lactic%20acid%20levels%20or%20disease-speci%5Cufb01c%20metabolic%20indicators.%20Cardiac%20and%20extracardiac%20traits%2C%20imaging%20tests%2C%20family%20studies%2C%20and%20genetic%20testing%20provide%20precise%20diagnoses.%20Cardiac%20phenotypes%20are%20mainly%20dilated%20and%20hypokinetic%20in%20dystrophinopathies%2C%20Emery-Dreifuss%20muscular%20dystrophies%2C%20and%20limb%20girdle%20muscular%20dystrophies%3B%20hypertrophic%20in%20Friedreich%20ataxia%2C%20mitochondrial%20diseases%2C%20glycogen%20storage%20diseases%2C%20and%20fatty%20acid%20oxidation%20disorders%3B%20and%20restrictive%20in%20myo%5Cufb01brillar%20myopathies.%20Left%20ventricular%20noncompaction%20is%20variably%20associated%20with%20the%20different%20myopathies.%20Conduction%20defects%20and%20arrhythmias%20constitute%20a%20major%20phenotype%20in%20myotonic%20dystrophies%20and%20skeletal%20muscle%20channelopathies.%20Although%20the%20actual%20cardiac%20management%20is%20rarely%20based%20on%20the%20cause%2C%20the%20cardiac%20phenotypes%20need%20precise%20characterization%20because%20they%20are%20often%20the%20only%20or%20the%20predominant%20manifestations%20and%20the%20prognostic%20determinants%20of%20many%20hereditary%20muscle%20disorders.%20%28J%20Am%20Coll%20Cardiol%202018%3B72%3A2485%5Cu2013506%29%20%5Cu00a9%202018%20by%20the%20American%20College%20of%20Cardiology%20Foundation.%22%2C%22date%22%3A%2211%5C%2F2018%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.jacc.2018.08.2182%22%2C%22ISSN%22%3A%2207351097%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS073510971838584X%22%2C%22collections%22%3A%5B%22TXVCZDJ3%22%5D%2C%22dateModified%22%3A%222019-12-18T18%3A56%3A50Z%22%7D%7D%5D%7D
1.
Arbustini E, Di Toro A, Giuliani L, Favalli V, Narula N, Grasso M. Cardiac Phenotypes in Hereditary Muscle Disorders. Journal of the American College of Cardiology [Internet]. 2018 [cited 2019 Dec 18];72(20):2485–506. Available from: https://linkinghub.elsevier.com/retrieve/pii/S073510971838584X