Protein surplus myopathies and other rare congenital myopathies.
The protein surplus myopathies have emerged as a newly recognized subgroup of morphologically defined myopathies within the spectrum of congenital myopathies because of the accumulation of protein aggregates, some of them mutant proteins. Currently, nosologic, including molecular criteria include desmin-related myopathies, actinopathies, and hereditary inclusion body myopathies, whereas hyaline body myopathy is still a putative form of protein surplus myopathy because of lack of any molecular data. The congenital myopathies (CM), foremost including nemaline and myotubular myopathies, have given evidence that, despite their epidemiologic rarity, the molecular age has dawned in CM and has even revealed surprising new nosologic features requiring reassessment and reclassification of certain CM. It is to be expected that a recently updated ENMC Consortium on "Protein surplus and other congenital myopathies" may procure important new information.
Goebel
Hans H
HH
Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany.
Borchert
Astrid
A
D008841:Actin Cytoskeleton / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003599:Cytoskeleton / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D003893:Desmin / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D020914:Myopathies, Structural, Congenital / Q000145:classification / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics
D003893:Desmin