title: [Structural congenital myopathies].
abstract: BACKGROUND
  Congenital myopathies are a heterogeneous group of diseases that share clinical early onset and specific hystopathological alterations in muscle. Genetic studies allow to determine the causative mutation in most cases. Genotypic and phenotypic heterogeneity exists, which is illustrated by noting that a genotype can be expressed in more than one clinicopathologic way and a phenotype may be caused by different genetic mutations.
  
  
  METHODS
  In this review we detail the characteristics of major congenital myopathies that allow clinical, pathological and genetic identification. We describe the findings of muscle biopsy that are the mainstay diagnosis. We emphasize and detail the importance of differential diagnosis by ruling out other diseases that present with hypotonia in infancy or neonatal period. We highlight the severe neonatal forms (nemaline, X-linked myotubular) to be identified early to establish prognosis and provide appropriate genetic counseling. We emphasize mutations of ryanodine gene (RYR1) through its association with malignant hyperthermia and mutations of selenoprotein 1 (SEPN1) and nemaline by its association with nocturnal hypoventilation.
  
  
  CONCLUSIONS
  The deep knowledge of structural congenital myopathies facilitates diagnostic confirmation of congenital myopathy, allowing the timely implementation of measures related to breathing and feeding in more severe cases and the optimization of motor function in all patients with myopathy congenital.
authors.affiliation: Hospital Luis Calvo Mackenna. Facultad de Medicina, Santiago de Chile, Chile.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Erazo-Torricelli
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D017696:Myopathies, Nemaline / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020512:Myopathy, Central Core / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D051140:Selenoproteins / Q000235:genetics; D014335:Tropomyosin / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C101410:BIN1 protein, human; C555066:KBTBD13 protein, human; D009124:Muscle Proteins; D009687:Nuclear Proteins; D019837:Ryanodine Receptor Calcium Release Channel; C435489:SELENON protein, human; D051140:Selenoproteins; C498783:TPM3 protein, human; D014335:Tropomyosin; D025521:Tumor Suppressor Proteins