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8,007 Possible Causes for CONGENITAL,, DYSTROPHY,, FUKUYAMA, MUSCULAR, TYPE

  • Fukuyama Muscular Dystrophy

    Prognosis - Fukuyama type muscular dystrophy Not supplied. Treatment - Fukuyama type muscular dystrophy Not supplied.[checkorphan.org] Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. Review.[ghr.nlm.nih.gov] BACKGROUND: One of the main complications in patients with muscular dystrophies is cardiac dysfunction.[ncbi.nlm.nih.gov] What is Fukuyama Type Congenital Muscular Dystrophy?[dovemed.com] What Is Muscular Dystrophy?[webmd.com]

  • Congenital Muscular Dystrophy

    Cerebromuscular dystrophy, Fukuyama type FCMD Fukuyama CMD Fukuyama muscular dystrophy Fukuyama syndrome Fukuyama type congenital muscular dystrophy Muscular dystrophy, congenital[ghr.nlm.nih.gov] […] production of fukutin, a type of protein.[dovemed.com] KEYWORDS: Fukuyama congenital muscular dystrophy; Scoliosis; Spinal fusion[ncbi.nlm.nih.gov] Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases .[en.wikipedia.org] University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan. [email protected] Abstract We present a 14-year-old boy with Fukuyama-type[ncbi.nlm.nih.gov]

  • Congenital Merosin-Positive Muscular Dystrophy

    Haplotype analysis using microsatellite markers excluded the Fukuyama congenital muscular dystrophy, LAMA2 and muscle-eye-brain disease loci.[discovery.ucl.ac.uk] […] form of congenital muscular dystrophy.[ncbi.nlm.nih.gov] In one, this pattern may be a secondary consequence of marked type 1 fibre predominance, but the other three biopsies contained abundant type 2 fibres where alpha-actinin-[ncbi.nlm.nih.gov] Article type: Research Article Authors: Shaharao, Vijaya B. Agarwal, Rinku Muranjan, Mamta N. Bavdekar, Sandeep B. Affiliations: Department of Pediatrics, Seth G. S.[content.iospress.com] Among these, the laminin α2 chain 'merosin' deficient CMD is caused by mutations of the LAMA2 gene on chr 6q2 and Fukuyama CMD is linked to chr 9q31.[jhu.pure.elsevier.com]

  • Congenital Muscular Dystrophy Type 1D

    Phenotypes are categorized by OMIM as MDDGA 1-14 and include Walker-Warburg syndrome , muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy.[medlink.com] Entry H01962 Disease Name Congenital muscular dystrophy type 1D Supergrp Muscular dystrophy-dystroglycanopathy type B [DS: H01960 ] Congenital muscular dystrophies (CMD/MDC[genome.jp] […] infiltrate, /- absent staining laminin α2 Classification CMD 1 : abnormal white matter varies from mild (CMD1 merosin positive) to moderate-severe (CMD 1 merosin negative) CMD 2: Fukuyama[radiopaedia.org] […] tissue) Muscular Dystrophy Biopsy Requisition Molecular testing of LARGE by direct sequencing Muscular Dystrophy Molecular Genetics Requisition / International Requisition Fukuyama[medicine.uiowa.edu] […] myotonic dystrophy oculopharangeal muscular dystrophy Emery-Dreifuss muscular dystrophy.[betterhealth.vic.gov.au]

  • Congenital Muscular Dystrophy Type Ullrich

    Some CMD subtypes such as merosin-deficient congenital muscular dystrophy (MDC1A), Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama CMD (see these terms) should[orpha.net] 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] […] fiber type disproportion (FTD).[ncbi.nlm.nih.gov] It is one of the most common forms of congenital muscular dystrophy (CMD).[musculardystrophyuk.org] In Fukuyama CMD , FKTN mutations are detected in as many as 100% of individuals.[invitae.com]

  • Congenital Muscular Dystrophy Type 1C

    Fukuyama Congenital Muscular Dystrophy (FCMD) FCMD was first reported by Fukuyama [ 15 ] in 1960.[ijponline.biomedcentral.com] Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.[link.springer.com] Chapter First Online: 06 October 2017 Abstract MDC1C is a form of congenital muscular dystrophy with mental retardation and structural brain abnormalities and belongs to a[link.springer.com] CI in dystroglycanopathies seems most prevalent among all CMDs and includes dilated cardiomyopathy, systolic dysfunction, and myocardial fibrosis in Fukuyama CMD.[utsouthwestern.influuent.utsystem.edu] Fukutin is a protein associated with Fukuyama congenital muscular dystrophy.It has also been associated with dilated cardiomyopathy.The protein is a putative transmembrane[cloud-clone.com]

  • Myotonic Dystrophy

    This group includes Fukuyama CMD, which is common in Japan, Muscle-Eye-Brain (MEB) disease, described in Finland, and Walker-Warburg syndrome (WWS).[neuropathology-web.org] We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.[ncbi.nlm.nih.gov] Myotonic dystrophy is of 2 types; namely: myotonic dystrophy type 1 and myotonic dystrophy type 2.[symptoma.com] Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.[ncbi.nlm.nih.gov] Additional Resources: Muscular Dystrophy Association[kennedykrieger.org]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    Fukuyama Congenital Muscular Dystrophy (FCMD) FCMD was first reported by Fukuyama [ 15 ] in 1960.[ijponline.biomedcentral.com] Homepage Rare diseases Search Search for a rare disease Congenital muscular dystrophy with integrin alpha-7 deficiency Disease definition Congenital muscular dystrophy with[orpha.net] Types Of CMD List The list includes 33 types of congenital muscular dystrophy, listed in alphabetical order.[mda.org] Muscle biopsy showed changes consistent with congenital myopathy.[link.springer.com] More Symptoms of Muscular dystrophy, congenital, due to integrin alpha-7 deficiency » • • • Back to: « Muscular dystrophy Genetics of Muscular dystrophy, congenital, due to[familydiagnosis.com]

  • Congenital Muscular Dystrophy Type 1A

    Phenotypes are categorized by OMIM as MDDGA 1-14 and include Walker-Warburg syndrome , muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy.[medlink.com] Abstract Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy.[ncbi.nlm.nih.gov] The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.es] The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.[rarediseases.info.nih.gov] One of these is Fukuyama CMD (FCMD, OMIM:253800 ), a multi-system disease in which skeletal muscle, cardiac muscle and brain are affected.[dmd.nl]

  • Limb-Girdle Muscular Dystrophy

    Mutations in fukutin cause Fukuyama congenital muscular dystrophy.[ncbi.nlm.nih.gov] Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD)[ncbi.nlm.nih.gov] Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare muscular dystrophies.[en.wikipedia.org] […] imaging Publication type, MeSH terms, Substances, Supplementary concept Publication type Research Support, Non-U.S.[ncbi.nlm.nih.gov] KEYWORDS: Congenital myasthenic syndrome; GMPPB; Limb girdle muscular dystrophy; Muscle MRI; Mutation hotspot[ncbi.nlm.nih.gov]

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