title: Muscle imaging in congenital myopathies.
abstract: Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in skeletal muscle. During the past years, considerable overlap between different pathological and genetic forms of congenital myopathies has been discovered. In contrast, the pattern of involved muscles seen on muscle imaging is often more specific, providing useful additional information in the differential diagnosis of these diseases. Therefore, muscle imaging can help to target the most appropriate genetic investigations. The aim of this review is to give a comprehensive up-to-date overview of the muscle imaging findings that have recently been described in different genetic congenital myopathies.
authors.affiliation: APHP, Service de Pédiatrie, Hôpital Universitaire R. Poincaré, Garches, France.
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.forename: Robert Y
authors.initials: RY
authors.lastname: Carlier
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
mesh_terms: D003937:Diagnosis, Differential; D034285:Dynamin II / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009124:Muscle Proteins / Q000235:genetics; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D051140:Selenoproteins / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D009124:Muscle Proteins; D009419:Nerve Tissue Proteins; D019837:Ryanodine Receptor Calcium Release Channel; C435489:SELENON protein, human; D051140:Selenoproteins; C035620:nebulin; C075637:amphiphysin; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin; D034285:Dynamin II