Gene-related protein surplus myopathies

Molecular Genetics and Metabolism

Volumn 71, Issue 1-2, 2000, Pages 267-275

  Goebel, Hans H ^a   Warlo, Irene ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Actin; Actinopathy; Desmin; Desminopathies; Hereditary inclusion body myopathies; Hyaline body myopathy; Immunoelectron microscopy; Mutations; Nemaline myopathy; Surplus protein; B crystallin

Indexed keywords

ACTIN; ALPHA 1 ANTICHYMOTRYPSIN; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; CRYSTALLIN; DESMIN; DYSTROPHIN; GELSOLIN; NESTIN; UBIQUITIN; VIMENTIN;

ACTIN FILAMENT; ALZHEIMER DISEASE; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MUSCULAR DYSTROPHY; MYOPATHY; NEUROFIBRILLARY TANGLE; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN ANALYSIS; SHORT SURVEY;

EID: 0033819108     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3064     Document Type: Article

References (54)

1. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
2. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
3. Congenital myopathies with inclusion bodies: A brief review
4. Congenital myopathy with cytoplasmic bodies
5. Autosomal dominant 'spheroid body myopathy'
6. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
7. Spheroid-cytoplasmic complexes in a congenital myopathy
8. Mallory body-like inclusions in a hereditary congenital neuromuscular disease
9. A new familial congenital myopathy in children with desmin and dystrophin reacting plaques
10. Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarcoplasmique d'un materiel granulo-filamentaire dense en microscopie electronique
11. Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells
12. An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments
13. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration
14. Desmin myopathy: A multisystem disorder involving skeletal, cardiac, and smooth muscle
15. Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle: Report of a case with immunoelectron microscopy
16. Skeletal muscle pathology in neuromuscular diseases
17. Fatal congenital myopathy with actin filament deposits
18. Congenital myopathy with excess of thin myofilaments
19. Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: Clinical features and muscle patholoy
20. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: Current concepts of diagnosis and pathogenesis
21. The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein
22. Spheroid body myopathy - Revisited
23. Storage of phosphorylated desmin in a familial myopathy
24. Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy
25. Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: Report of two cases of a new entity
26. Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin
27. Desmin myopathy with cardiomyopathy
28. Desmin-related neuromuscular disorders
29. Familial desmin myopathies and cytoplasmic body myopathies
30. Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
31. Familial desminopathy: Myopathy with accumulation of desmin-type intermediate filaments
32. A sporadic, atypical case of desminopathy: Morphologial and immunological characterization
33. Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies
34. Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies
35. Desmin-related myopathies
36. Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy
37. Hyaline body myopathy
38. Missense mutations in desmin associated with familial cardiac and skeletal myopathy
39. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation
40. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
41. Desmin mutation responsible for idiopathic dilated cardiomyopathy
42. Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation
43. Structural and functional deficiency of desmin associated with cardiac and skeletal myopathy
44. A dysfunctional desmin mutation in a patient with severe generalized myopathy
45. A missense mutation in the alpha-B crystallin chaperone gene causes a desmin-related myopathy
46. Human desmin gene: cDNA Sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
47. αB-crystallin in cardiac tissue
48. αB crystallin regulates intermediate filament organization in situ
49. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q
50. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy
51. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
52. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1
53. Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p31.1