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56 Possible Causes for DYSTROPHY,, MUSCULAR, SCLEROATONIC

  • Congenital Muscular Dystrophy Type Ullrich

    OBJECTIVES: To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive[ncbi.nlm.nih.gov] Reynolds Abstract We report on sibs with scleroatonic familial myopathy (Ullrich disease).[onlinelibrary.wiley.com] It is one of the most common forms of congenital muscular dystrophy (CMD).[musculardystrophyuk.org]

  • Bethlem Myopathy

    Abstract 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[ncbi.nlm.nih.gov] […] in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic[ncbi.nlm.nih.gov] The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.com]

  • Congenital Merosin-Positive Muscular Dystrophy

    […] form of congenital muscular dystrophy.[ncbi.nlm.nih.gov] Am J Hum Genet 69:1198–1209 PubMed Google Scholar Camacho VO, Bertini E, Zhang RZ, Petrini S et al (2001) Ullrich scleroatonic muscular dystrophy is caused by recessive mutations[link.springer.com] Camacho Vanegas OBertini EZhang RZ et al Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.[jamanetwork.com]

  • Congenital Muscular Dystrophy

    dystrophy).[ghr.nlm.nih.gov] Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA. 2001;98(13): 7516-21. 17.[healio.com] Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol . 2005 Sep. 58(3):400-10. [Medline] .[emedicine.medscape.com]

  • Congenital Muscular Dystrophy Type 1A

    Abstract Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy.[ncbi.nlm.nih.gov] Title Other Names: Ullrich disease; Ullrich scleroatonic muscular dystrophy; UCMD; Ullrich disease; Ullrich scleroatonic muscular dystrophy; UCMD; Late onset scleroatonic[rarediseases.info.nih.gov] The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.es]

  • Fukuyama Muscular Dystrophy

    BACKGROUND: One of the main complications in patients with muscular dystrophies is cardiac dysfunction.[ncbi.nlm.nih.gov] […] muscular dystrophy, UCMD, Late onset scleroatonic familial myopathy (subtype), Scleroatonic muscular dystrophy Walker-Warburg syndrome Synonyms: Hydrocephalus, agyria and[rarediseases.info.nih.gov] Prognosis - Fukuyama type muscular dystrophy Not supplied. Treatment - Fukuyama type muscular dystrophy Not supplied.[checkorphan.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A

    Abstract Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated.[ncbi.nlm.nih.gov] Collagen type VI and related disorders: Bethlem myopathy and UIlrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol. 2002;6(4): 193-198. 58.[healio.com] How common is limb-girdle muscular dystrophy type 2A?[geneaware.clinical.bcm.edu]

  • Limb-Girdle Muscular Dystrophy

    Abstract Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy,[ncbi.nlm.nih.gov] Collagen type VI and related disorders: Bethlem myopathy and UIlrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol. 2002;6(4): 193-198. 58.[healio.com] Cardiac arrhythmias are mostly seen in LGMD 1B and 1E types of muscle dystrophy.[symptoma.com]

  • Tibial Muscular Dystrophy

    The findings suggest that TMD may be caused by a mutation in a previously unknown locus for muscular dystrophy.[ncbi.nlm.nih.gov] Camacho Vanegas OBertini EZhang RZ et al Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.[jamanetwork.com] ; myotonic dystrophy types 1 and 2; and distal muscular dystrophies.[books.google.com]

  • Congenital Muscular Dystrophy Type 1D

    Entry H01962 Disease Name Congenital muscular dystrophy type 1D Supergrp Muscular dystrophy-dystroglycanopathy type B [DS: H01960 ] Congenital muscular dystrophies (CMD/MDC[genome.jp] Camacho Vanegas OBertini EZhang RZ et al Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.[jamanetwork.com] […] myotonic dystrophy oculopharangeal muscular dystrophy Emery-Dreifuss muscular dystrophy.[betterhealth.vic.gov.au]