Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

Neuromuscular Disorders

Volumn 11, Issue 2, 2001, Pages 178-185

  Politano, L ^a   Nigro, V ^a   Passamano, L ^a   Petretta, V ^a   Comi, L I ^a   Papparella, S ^b   Nigro, Ge ^a   Rambaldi, P F ^a   Raia, P ^a   Pini, A ^c   Mora, M ^d   Giugliano, M A M ^a   Esposito, M G ^a   Nigro, G ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c MAGGIORE HOSPITAL   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Cardiac involvement; Respiratory involvement; Sarcoglycanopathy

Indexed keywords

SARCOGLYCAN;

ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; DNA DETERMINATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FEMALE; GENE MUTATION; HEART DILATATION; HEART FUNCTION; HUMAN; IMMUNOCYTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCINTIGRAPHY; SPIROMETRY;

ADOLESCENT; ADULT; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; MYOCARDIUM; PHENOTYPE; RESPIRATORY FUNCTION TESTS; RESPIRATORY INSUFFICIENCY; SARCOGLYCANS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 0035097338     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00174-7     Document Type: Article

References (36)

1. Human ε-sarcoglycan is highly related to α-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D
2. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21
3. Dystrophin associated proteins in muscular dystrophies
4. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
5. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
6. β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
7. Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E
8. Mutations in the sarcoglycan genes in patients with myopathy
9. Severe childhood autosomal recessive muscular dystrophy with deficiency of the 50 kDa dystrophin associated glycoprotein maps to chromosome 13q12
10. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q
11. Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy
12. Mild and severe muscular dystrophy are caused by a single γ-sarcoglycan mutation
13. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
14. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
15. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kda glycoprotein
16. Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the 30th ENMC workshop on limb-girdle muscular dystrophies
17. Clinical and genetic aspects of sarcoglycanopathies
18. Dystrophin associated glycoprotein myopathy mimicking X-linked inheritance
19. Discordant clinical outcome in patients with limb-girdle muscular dystrophy 2C showing the same deletion pattern
20. Clinical and genetic findings in sarcoglycanopathies
21. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
22. Identification of the Syrian hamster cardiomyopathy gene
23. Left ventricular function and perfusion in Becker's muscular Dystrophy
24. Electrocardiographic evaluation of the P type stage of dystrophic cardiomyopathy
25. Subclinical cardiomyopathy in Becker muscular dystrophy
26. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
27. Evaluation of the cardiomyopathy in Becker muscular dystrophy
28. Cardiac involvement in a patient with limb-girdle muscular dystrophy
29. Marked cardiac involvement in limb-girdle muscular dystrophy
30. Cardiomyopathy of limb-girdle muscular dystrophy
31. Limb girdle muscular dystrophy: a non-invasive cardiac evaluation
32. The heart in limb girdle muscular dystrophy
33. Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
34. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
35. A role for mast cells in the progression of the Duchenne Dystrophy? Correlation in dystrophin-deficient humans, dog and mice
36. Cardiomyopathy in Duchenne, Becker and sarcoglycanopathies: a role for coronary dysfunction?