Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype

Annals of Neurology

Volumn 51, Issue 2, 2002, Pages 224-234

  Selcen, Duygu ^a   Krueger, Bruce R ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTICHYMOTRYPSIN; ALPHA ACTININ; ALPHA B CRYSTALLIN; ALPHA CRYSTALLIN; CONNECTIN; CRYSTALLIN; DESMIN; DYSTROPHIN; GELSOLIN; HYALIN; MYOSIN; NEBULIN; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CERVICAL SPINE; DELTOID MUSCLE; ELECTROMYOGRAM; FEMALE; HUMAN; MALE; MUSCLE WEAKNESS; NEMALINE MYOPATHY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN DEGRADATION; RESPIRATORY FAILURE; SPINE MALFORMATION; SYNDROME; TIBIALIS ANTERIOR MUSCLE;

AGE OF ONSET; BIOPSY; CARDIOMYOPATHIES; FAMILY HEALTH; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE PROTEINS; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE; PHENOTYPE; SARCOLEMMA;

EID: 0036154431     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10096     Document Type: Article

References (55)

1. Multicore myopathy presenting in adulthood with respiratory failure
2. Adult onset of nemaline myopathy presenting as respiratory insufficiency
3. Myopathy with respiratory failure and typical myofibrillar lesions
4. Acid maltase deficiency in adults presenting as respiratory failure
5. Respiratory failure revealing mitochondrial myopathy in adults
6. Respiratory involvement in primary muscle disorders: Assessment and management
7. Polymyositis presenting with respiratory failure
8. Inclusion body myositis as a cause of respiratory failure
9. Amyloid myopathy presenting with respiratory failure
10. The muscle biopsy
11. Human desmin-coding gene: Complete nucleotide sequence, characterization and regulation of expression during myogenesis and development
12. Human αB-crystallin gene and preferential promoter function in lens
13. Nemaline (Z disk) myopathy: Observations on the origin, structure, and solubility properties of the nemaline structures
14. Nemaline myopathy appearing in adults as cardiomyopathy
15. Familial congestive cardiomyopathy with nemaline rods in heart and skeletal muscle
16. Nemaline cardiomyopathy
17. Nemaline myopathy associated with hypertrophic cardiomyopathy
18. Congenital nemaline myopathy with dilated cardiomyopathy: An autopsy study
19. A new case of severe congenital nemaline myopathy
20. Nemaline myopathy and cardiomyopathy
21. Nemaline cardiomyopathy in a young adult: An ultraimmunohistochemical study and review of the literature
22. Cardiac involvement in congenital myopathy
23. Nemaline myopathy with associated cardiomyopathy report of clinical and detailed autopsy findings
24. Nemaline rod disease, with reference to the routine use of histochemical methods in autopsy investigations
25. Congenital nonprogressive myopathy: Central core disease and nemaline myopathy in one family
26. A new concept of childhood nemaline myopathy
27. Common origin of rods, cores, miniature cores, and focal loss of cross-striations
28. Familial nemaline myopathy
29. Coexistence of minicores, cores, and rods in the same muscle biopsy: A new example of mixed congenital myopathy
30. Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: A muscle disorder mimicking polymyositis
31. Nemaline rod and central core disease: A coexisting Z-band myopathy
32. Central core and nemaline rods in the same patient
33. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYRI gene encoding the skeletal muscle ryanodine receptor
34. A novel ryanodine receptor gene mutation causing both cores and tods in congenital myopathy
35. Ultrastructural changes in diseased muscle
36. Patterns of abnormal protein expression in target formations and unstructured cores
37. Expression of cytoskeleton proteins in central core disease
38. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
39. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
40. Ubiquitin-mediated protein degradation
41. Distribution pattern and functional state of complement proteins and α1-antichymotrypsin in cerebral b/A4 deposits in Alzheimer's disease
42. The role of acute-phase protein α1-antichymotrypsin in brain dysfunction and injury
43. αB-crystallin interacts with intermediate filaments in response to stress
44. Alpha-crystallin can function as a molecular chaperone
45. Desmin and vimentin in regenerating muscles
46. Neural cell adhesion molecule in normal, denervated, and myopathic human muscle
47. Fetal myosin immunore-activity in human dystrophic muscle
48. Missense mutations in desmin associated with familial cardiac and skeletal myopathy
49. A dysfunctional desmin mutation in a patient with severe generalized myopathy
50. A missense mutation in the desmin rod domain is associated with autosomal dominant negative effect on filament formation
51. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
52. A novel de novo desmin mutation in the desmin gene causes desmin myopathy with toxic aggregates
53. A missense mutation in the αB-crsytallin chaperone gene causes a desmin-related myopathy
54. Amyloid deposits and amyloidosis. The β-fibrilloses