Search results for "NEMALINE MYOPATHY"

Congenital myopathies at their molecular dawning

2003

The introduction and application of molecular techniques have commenced to influence and alter the nosology of congenital myopathies. Long-known entities such as nemaline myopathies, core diseases, and desmin-related myopathies have now been found to be caused by unequivocal mutations. Several of these mutations and their genes have been identified by analyzing aggregates of proteins within muscle fibers as a morphological hallmark as in desminopathy and actinopathy, the latter a subtype among the nemaline myopathies. Immunohistochemistry has played a crucial role in recognizing this new group of protein aggregate myopathies within the spectrum of congenital myopathies. It is to be expected…

Congenital Myopathies in the New Millennium

2005

Few medical disciplines have benefited so enormously from the molecular revolution as myology. Whereas the congenital myopathies have flourished from enzyme histochemistry and electron microscopy, defining individual congenital myopathies by structural abnormalities, genetic research has only recently focused on congenital myopathies. However, a number of congenital myopathies have been molecularly elucidated: central and multiminicore diseases, nemaline myopathy, myotubular myopathy, and congenital myopathy marked by aggregation of proteins, giving rise to the concept of protein aggregate myopathies, to which now desminopathies, α-B crystallinopathies, selenoproteinopathy, myotilinopathy,…

Protein Aggregation in Muscle Fibers and Respective Neuromuscular Disorders

2007

Protein aggregation in muscle fibers may be a nonspecific phenomenon such as occurring in cores or ragged red fibers. However, it may also be a disease-specific and disease-significant phenomenon constituting protein aggregate myopathies (PAMs). These may be divided into two classes: The first one is marked by impaired extralysosomal degradation of proteins, catabolic PAM, encompassing desmin-related myopathies. Mutant proteins, that is, desmin, myotilin, or α-B crystallin, defy protein degradation, aggregate and associate with other proteins within muscle fibers, hence marking desminopathies, myotilinopathies, and α-B crystallinopathies. A second class of PAM encompasses those apparently a…

Neonatal form of nemaline myopathy, muscle immaturity, and a microvascular injury.

1990

An infant with a neonatal form of nemaline myopathy showed ultrastructural features of muscle immaturity. Immaturity was characterized by an abnormal presence of myotubes, as well as cells in clusters within a common basement membrane and a great number of satellite cells adhering to very small muscle fibers. In addition, degenerative changes and a severe microvascular lesion were observed. The pathologic findings in the muscle of this patient were those of neonatal nemaline myopathy complicating severe microvascular injury, possibly induced by an unknown toxic agent. ( J Child Neurol 1990;5:122-126).

Surplus protein myopathies.

2001

Abstract Certain muscular dystrophies are marked by absence or reduction of mutant proteins, foremost dystrophinopathies and sarcoglycanopathies. Conversely, other sporadic and familial neuromuscular conditions are marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy. This emerging group of congenital myopathies is clinically, immunohistochemically, and genetically diverse. Clinically, early- and late-onset diseases with variable courses are described. Immunohistochemically, mutant gene-related and other proteins have been identified by immunohistochemistry. Mutations in the desmin and α…

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7–9 November 2003, Naarden, The Netherlands

2004

The 121st European Neuromuscular Centre (ENMC)sponsored International Workshop on ‘DESMIN and Protein Aggregate Myopathies’, attended by 16 active participants from France, Germany, Poland, Spain, Sweden, the United Kingdom and the USA, was actually the fourth one in a row addressing the pathology of the muscle fibre intermediate filament desmin, its associated and similar diseases, all four [1–3] organized by Michel Fardeau and Hans H. Goebel. In his introduction, the chairman, Hans H. Goebel (Mainz), recorded the evolution of ‘Protein Aggregate Myopathies (PAM)’ which are marked by the accumulation of diverse proteins within muscle fibres as a morphologic hallmark in separate myopathies w…

Nemaline myopathy with intranuclear rods--intranuclear rod myopathy.

1997

Among the different nosological forms of nemaline/rod myopathy, one morphological variant is marked by intranuclear rods in addition to sarcoplasmic rods. Such patients fall into two categories: firstly, adults and secondly, young infants suffering from the severe form. Intranuclear rods indicate unfavourable prognosis. Recently, intranuclear rods without sarcoplasmic rods have also been encountered. Intranuclear rods, largely solitary, are often found large in size with the ultrastructural lattice pattern of sarcoplasmic rods and Z-disks. They contain alpha-actinin and actin. The origin of intranuclear rods is still enigmatic. Their presence within nuclei without sarcoplasmic rods points t…

Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) spo…

1999

Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.

2010

A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highl…