Desmin myopathy with cardiomyopathy

Cameron, C. H. S.; Mirakhur, M.; Allen, Ingrid V.

doi:10.1007/bf00571512

Cited by 20 publications

(5 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…89 Filaments (15-18 nm) may be present in association with rimmed vacuoles. 4,24,38,41 Some investigators 94 have found smaller, 8-10-nm filaments, but these could not be found by others, 89 despite intensive searching. On immunohistochemical analysis, the nonhyaline lesions react to desmin, dystrophin, neural cell adhesion molecule, gelsolin, and ␤-amyloid precursor protein.…”

Section: 76mentioning

confidence: 89%

“…28,40 Desmin is not the only muscle protein that accumulates in this myopathy, and, therefore, the term "myofibrillar myopathy" has been proposed. 89 In fact, this entity has been reported under a variety of names: desmin myopathy, 24 desmin storage myopathy, 35 spheroid body myopathy, 41 cytoplasmic body myopathy, 25 Mallory body myopathy, 38 intermediate filament myopathy, 38 familial cardiomyopathy with subsarcolemmal vermiform deposits, 23 and myopathy with intrasarcoplasmic accumulation of dense granulofilamentous material. 34 It is likely that patients who have been diagnosed with other forms of distal myopathy actually have myofibrillar myopathy.…”

Section: Myofibrillar Myopathy With Abnormal Foci Ofmentioning

confidence: 97%

See 1 more Smart Citation

Clinical and genetic aspects of distal myopathies

Saperstein¹,

Amato²,

Barohn³

2001

Muscle and Nerve

View full text Add to dashboard Cite

Although most muscle disorders produce proximal weakness, some myopathies may manifest predominantly or exclusively distal weakness. Although several congenital, inflammatory, or metabolic myopathies may produce mainly distal weakness, there are several distinct entities, typically referred to as distal myopathies. Most of these are inherited conditions. The distal myopathies are rare, but characteristic clinical and histological features aid in their identification. Advances in molecular genetics have led to the identification of the gene lesions responsible for several of these entities and have also expanded our understanding of the genetic relationships of distal myopathies to other inherited disorders of muscle. This review summarizes current knowledge of the clinical and molecular aspects of the distal myopathies.

show abstract

Section: 76mentioning

confidence: 89%

Section: Myofibrillar Myopathy With Abnormal Foci Ofmentioning

confidence: 97%

Clinical and genetic aspects of distal myopathies

Saperstein¹,

Amato²,

Barohn³

2001

Muscle and Nerve

View full text Add to dashboard Cite

show abstract

“…A large number of sporadic cases of cardiac and skeletal myopathy with intracytoplasmic desmin deposits in the muscle cells have been reported [21–25], but the causal relationship between the sporadic and familial cases has not been addressed. The present study provides evidence that a de novo mutation in the desmin gene is responsible for sporadic desmin myopathy.…”

Section: Discussionmentioning

confidence: 99%

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

et al. 2000

View full text Add to dashboard Cite

Desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in patients with familial myopathy, but close to 45% of the patients do not report previous family history of the disease. The present study was conducted to determine the cause of desmin myopathy in a sporadic patient presenting with symmetrical muscle weakness and atrophy combined with atrioventricular conduction block requiring a permanent pacemaker. A novel heterozygous R406W mutation in the desmin gene was identified by sequencing cDNA and genomic DNA. Expression of a construct containing the patient's mutant desmin cDNA in SW13 (vim-) cells demonstrated a high pathogenic potential of the R406W mutation. This mutation was not found in the patient's father, mother or sister by sequencing and restriction analysis. Testing with five microsatellite markers and four intragenic single nucleotide polymorphisms excluded alternative paternity. Haplotype analysis indicates that the patient's father was germ-line mosaic for the desmin mutation. We conclude that de novo mutations in the desmin gene may be the cause of sporadic forms of desmin-related cardiac and skeletal myopathy.

show abstract

“…48 The respective inclusions are associated with aggregation of desmin. 70, 148 This has resulted in the terms desmin‐related myopathies, 67, 74 myopathies associated with desmin storage, 26, 91 or desminopathies. 71 Clinically, these desmin‐related myopathies have been seen in children 15, 25, 48, 54, 55, 154, 195 and adults.…”

Section: Congenital Myopathies With Mutant Proteinsmentioning

confidence: 99%

“…30, 54, 55, 97 Rigid spine 158 as well as asymptomatic familial hyperCKemia 155 have been observed within the spectrum of these myopathies. When the morphological findings consisted of granulofilamentous material, cardiomyopathy was a regularly associated clinical feature, 26, 48, 65, 191 with granulofilamentous material and desmin deposits 7, 181 also present in cardiac myocytes. 118 Peripheral neuropathy marked by giant axons, owing to accumulation of neurofilaments, was seen in some patients 15, 117, 162 and suggests a wide heterogeneous clinical spectrum among the desmin‐related myopathies.…”

Section: Congenital Myopathies With Mutant Proteinsmentioning

confidence: 99%

Congenital myopathies at their molecular dawning

Goebel

2003

Muscle and Nerve

View full text Add to dashboard Cite

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 that other congenital myopathies marked by inclusion bodies may turn out to be such protein aggregate myopathies, depending on analysis of individual proteins within these protein aggregates and their association with putative gene mutations.

show abstract

Desmin myopathy with cardiomyopathy

Cited by 20 publications

References 20 publications

Clinical and genetic aspects of distal myopathies

Clinical and genetic aspects of distal myopathies

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

Congenital myopathies at their molecular dawning

Contact Info

Product

Resources

About