- ►bmj.com R Barresi, C Di Blasi, T Negri, R Brugnoni, A … - British Medical Journal, 2000 - jmg.bmj.com PATIENT 1 This 27 year old male, born to non-consanguineous parents (fig 1), was
first seen at the age of 15 for mild weakness of the proximal leg muscles.
Plasma CK was 2540 U/l (normally <200 U/l). Neurological examination showed ... Cited by 68 - Related articles - BL Direct - All 5 versions
P Melacini, M Fanin, DJ Duggan, MP Freda, A … - Muscle & nerve, 1999 - interscience.wiley.com Mutations in the sarcoglycan genes cause autosomal-recessive muscular
dystrophies. Because sarcoglycan genes and their protein products are highly
expressed both in skeletal and cardiac muscle, patients with these ... Cited by 72 - Related articles - BL Direct - All 4 versions
- ►nih.gov S Tsubata, KR Bowles, M Vatta, C Zintz, J … - Journal of Clinical Investigation, 2000 - Am Soc Clin Investig Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two
genes have been identified for the X-linked forms (dystrophin and tafazzin),
whereas three other genes (actin, lamin A/C, and desmin) cause autosomal ... Cited by 253 - Related articles - BL Direct - All 8 versions
T Gnecchi-Ruscone, J Taylor, E Mercuri, G … - Muscle & nerve, 1999 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 41 - Related articles - BL Direct - All 3 versions
- ►uiowa.edu [PDF] M Durbeej, RD Cohn, RF Hrstka, SA Moore, V … - Molecular Cell, 2000 - Elsevier Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caused by mutations in the
β-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscle.
β-sarcoglycan-deficient (Sgcb-null) mice developed severe muscular ... Cited by 110 - Related articles - All 11 versions
- ►bmj.com AJ Van der Kooi, WG De Voogt, PG Barth, … - British Medical Journal, 1998 - heart.bmj.com Cardiac involvement in muscular dystrophies is a well known complication. In
Duchenne muscular dystrophy, Becker muscular dystrophy, and carriers of the
dystrophin gene, assembled under the term dystrophinopathies, dilated ... Cited by 45 - Related articles - BL Direct - All 7 versions
TM Olson, NY Kishimoto, FG Whitby, VV … - Journal of Molecular and Cellular Cardiology, 2001 - Elsevier Proteins in cardiac myocytes assemble into contractile units known as
sarcomeres. Contractile force is generated by interaction between sarcomeric
thick and thin filaments. Thin filaments also transmit force within and ... Cited by 145 - Related articles - BL Direct - All 8 versions
R Coral-Vazquez, RD Cohn, SA Moore, JA Hill … - Cell, 1999 - cell.com To investigate mechanisms in the pathogenesis of cardiomyopathy associated with
mutations of the dystrophin–glycoprotein complex, we analyzed genetically
engineered mice deficient for either α-sarcoglycan () or δ-sarcoglycan ... Cited by 252 - Related articles - Cached - BL Direct - All 10 versions
- ►ahajournals.org TM Olson, S Illenberger, NY Kishimoto, S … - Circulation, 2002 - Am Heart Assoc From the Department of Pediatrics and the Division of Cardiology (TMO, NYK) and
the Departments of Human Genetics and Medicine, Division of Cardiology, and
Howard Hughes Medical Institute (MTK), University of Utah, Salt Lake City, ... Cited by 139 - Related articles - BL Direct - All 8 versions
R Cagliani, GP Comi, L Tancredi, M Sironi, F … - Neuromuscular Disorders, 2001 - Elsevier We report an unusual presentation of a primary β-sarcoglycanopathy (LGMD type
2E). A 12- year-old boy came to our attention after six episodes of
exercise-induced myoglobinuria. Electromyogram showed mild myopathic ... Cited by 9 - Related articles - BL Direct - All 7 versions
