|1.||Bönnemann, Carsten G: 8 articles (01/2015 - 06/2002)|
|2.||Merlini, Luciano: 6 articles (01/2014 - 04/2002)|
|3.||Muntoni, Francesco: 5 articles (01/2015 - 02/2005)|
|4.||Foley, A Reghan: 5 articles (01/2015 - 11/2012)|
|5.||Straub, Volker: 5 articles (05/2014 - 10/2012)|
|6.||Sabatelli, Patrizia: 5 articles (10/2013 - 04/2002)|
|7.||Squarzoni, S: 4 articles (09/2014 - 10/2008)|
|8.||Gualandi, F: 4 articles (09/2014 - 10/2008)|
|9.||Sabatelli, P: 4 articles (09/2014 - 10/2008)|
|10.||Merlini, L: 4 articles (09/2014 - 10/2008)|
|1.||Muscular Diseases (Myopathy)
02/01/2014 - "Although cardiac involvement is frequent in other inherited myopathies, it has not yet been described in Bethlem myopathy. "
03/01/1994 - "This myopathy has a clinical picture similar to the Bethlem myopathy."
04/01/1988 - "The similarities between four previously reported families and our own establishes this myopathy as a distinct clinicogenetic entity, for which we propose the name "Bethlem myopathy.""
02/01/2014 - "Bethlem myopathy is a congenital myopathy presenting with muscle weakness and joint abnormalities. "
10/01/2012 - "Muscle MRI therefore does not appear to be as useful in the diagnostic work up of LGMD2L as for other neuromuscular diseases, such as Bethlem myopathy or myofibrillar myopathy."
|2.||Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
08/28/1995 - "Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A."
02/26/2002 - "The authors' studies widen the clinical spectrum of Bethlem myopathy and suggest collagen VI etiology should be investigated in dominant limb-girdle muscular dystrophy. "
02/26/2002 - "Collagen VI is a ubiquitously expressed component of connective tissue; however, both limb-girdle muscular dystrophy and Bethlem myopathy patients show symptoms restricted to skeletal muscle. "
02/01/2005 - "However, the pattern observed in limb girdle muscular dystrophy 2A is different from that reported in other muscle diseases such as Emery-Dreifuss muscular dystrophy and Bethlem myopathy which have a significant clinical overlap with limb girdle muscular dystrophy 2A once early contractures are present. "
10/01/2001 - "The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more."
|3.||Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
05/01/1992 - "We report a study, assessing involvement of the heart in 33 familial cases of Becker muscular dystrophy (BMD), 31 familiar cases of facioscapulohumeral (FSH) dystrophy, and 27 familial cases of Bethlem myopathy. "
05/01/1992 - "The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy."
10/16/2012 - "The conditions studied were scans of genetically confirmed cases of Becker muscular dystrophy (BMD) (n = 28), LGMD2C-F (sarcoglycanopathies) (n = 11), LGMD2I (n = 4), LGMD1B (n = 26), LGMD2A (n = 24), Bethlem myopathy (n = 14), and LGMD2L (n = 11). "
04/01/2014 - "Fibronectin levels in patients with Becker muscular dystrophy, Bethlem myopathy, or myasthenia gravis were comparable to control levels. "
01/01/2009 - "PTP dysregulation is found in limb girdle muscular dystrophy (LGMD) type 2B myoblasts but not in myoblasts from patients with Bethlem myopathy, merosin-deficient congenital muscular dystrophy, LGMD2A, Duchenne muscular dystrophy and Leigh syndrome. "
04/01/2015 - "After identification of the genetic cause of the disease, careful neurologic examination revealed subtle contracture of the interphalangeal joint in the affected members, which is a characteristic sign of Bethlem myopathy. "
11/01/2011 - "Orthopedic assessment in necessary if surgery for Achilles tendon contractures is being considered in patient with Bethlem myopathy. "
09/01/2005 - "Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed."
06/01/2001 - "We report three cases of Bethlem myopathy from three consecutive generations of a Taiwanese family, including one woman aged 70, one man aged 40, and a boy aged 8. The clinical features of the patients included autosomal dominant inheritance, childhood or adolescent onset, mainly proximal and extensor involvement, early diffuse joint contractures, and absence of cardiac involvement. "
12/01/1996 - "Our cases were different from Bethlem myopathy, because the age of onset was late and joint contractures were mild in our cases, as compared with Bethlem myopathy. "
|5.||Muscular Dystrophies (Muscular Dystrophy)
04/01/2015 - "This is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy."
01/01/2006 - "COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy."
04/01/1999 - "Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures."
06/01/1998 - "We have identified a new pathogenic mechanism for an inherited muscular dystrophy in which functional haploinsufficiency of the extracellular matrix protein collagen VI causes Bethlem myopathy. "
01/01/2011 - "Mutations in the genes COL6A1, COL6A2, and COL6A3, coding for three α chains of collagen type VI, underlie a spectrum of myopathies, ranging from the severe congenital muscular dystrophy-type Ullrich (UCMD) to the milder Bethlem myopathy (BM), with disease manifestations of intermediate severity in between. "
|2.||Scleroatonic muscular dystrophy
|3.||Collagen Type VI
|4.||Limb-girdle muscular dystrophy type 2A
|10.||Sarcoglycans (beta Sarcoglycan)