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Revista chilena de pediatría

Print version ISSN 0370-4106

Abstract

SUAREZ, Bernardita et al. Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance. Rev. chil. pediatr. [online]. 2018, vol.89, n.3, pp.399-408. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062018005000305.

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Keywords : Collagen VI; Congenital Myo pathies; Magnetic resonance imagining; Muscle.

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