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1,501 Possible Causes for 2I,, DYSTROPHY,, LIMB GIRDLE,, MUSCULAR, VAL300ALA

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I

    What is Limb Girdle Muscular Dystrophy Type 2I?[patientslikeme.com] None of the three novel missense mutations Val121Glu (362T A), Val300Ala (899T C), and Arg352Gly (1054C G) were found in 100 normal alleles each.[jmg.bmj.com] ; myotonic dystrophy types 1 and 2; and distal muscular dystrophies.[books.google.com] Title Other Names: Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency; Autosomal recessive limb-girdle[rarediseases.info.nih.gov] Life expectancy is unknown, although most patients with limb-girdle muscular dystrophies have a shorter than natural life-span.[sema4genomics.com]

  • Congenital Muscular Dystrophy Type 1C

    See other definitions of LGMD Samples in periodicals archive: In a separate study, he and his associates transferred the large limb-girdle muscular dystrophy type 2D gene[acronymfinder.com] None of the three novel missense mutations Val121Glu (362T A), Val300Ala (899T C), and Arg352Gly (1054C G) were found in 100 normal alleles each.[jmg.bmj.com] Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.[link.springer.com] Skip to content Limb-girdle muscular dystrophy, type 2I is an autosomal recessive disorder that is caused by pathogenic variants in the gene FKRP.[sema4.com] Home / Genetic Testing / Test Catalogue / By Medical Specialty / Limb-girdle muscular dystrophy type 2I (LGMD2I, sequence analysis of FKRP gene) Back to results Limb-girdle[cgcgenetics.com]

  • Limb-Girdle Muscular Dystrophy

    Limb-girdle syndromes.[ncbi.nlm.nih.gov] 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] Clinicians are frequently asked if physical activity is harmful for pediatric patients with limb girdle muscular dystrophy 2I.[ncbi.nlm.nih.gov] Cardiac arrhythmias are mostly seen in LGMD 1B and 1E types of muscle dystrophy.[symptoma.com] Among all α-dystroglycanopathies, LGMD type 2I caused by FKRP mutations is most commonly seen in Europe but appears to be rare in Asia.[ncbi.nlm.nih.gov]

    Missing: VAL300ALA
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K

    [updated Mar. 2017 by FlyBase; FBrf0222196 ] Disease Summary Information Parent Disease Summary: muscular dystrophy, limb-girdle Symptoms and phenotype Limb-girdle muscular[flybase.org] Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012;20:1234–9.[link.springer.com] LGMD 2C, gamma-Sarcoglycan LGMD 2D, alfa-Sarcoglycan LGMD 2E, beta-Sarcoglycan LGMD 2F, delta-Sarcoglycan LGMD 2G, Telethonin, TCAP gene chr. 17q12 LGMD 2H, TRIM32 LGMD 2I[learningneurology.com] Cardiac and respiratory surveillance are particularly important in LGMD 1B, LGMD 2C-F and LGMD 2I.[patient.info] 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 Muscular Dystrophy, Limb-Girdle, Type 2K MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1[wikidata.org]

    Missing: VAL300ALA
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    Molecular pathology Defects of TTN, which encodes a critical protein in striated muscle, cause limb-girdle muscular dystrophy type 2J.[medical-dictionary.thefreedictionary.com] Where to Start Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy type 2I.[rarediseases.info.nih.gov] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com] LGMD limb-girdle syndrome myopathic limb-girdle syndrome MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE)[ghr.nlm.nih.gov] To meet others with LGMD2i join the 2i Facebook Group www.facebook.com/groups/LGMD2i/ If you have LGMD2i or an FKRP mutation, please register at The Global FKRP Registry.[lgmd2i.com]

    Missing: VAL300ALA
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G

    […] and Australian origins, either as limb girdle muscular dystrophy or as congenital muscular dystrophy.[medical-dictionary.thefreedictionary.com] ; myotonic dystrophy types 1 and 2; and distal muscular dystrophies.[books.google.com] […] autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I[rgd.mcw.edu] Cardiac and respiratory surveillance are particularly important in LGMD 1B, LGMD 2C-F and LGMD 2I.[patient.info] MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2g, also known as lgmd2g , is related to autosomal recessive limb-girdle muscular dystrophy and limb-girdle[malacards.org]

    Missing: VAL300ALA
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2L

    Keywords Anoctamin-5 Limb-girdle muscular dystrophy Distal myopathy References 1. Bolduc V, Marlow G, Boycott KM, et al.[link.springer.com] Where to Start Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy type 2I.[rarediseases.info.nih.gov] LGMD limb-girdle syndrome myopathic limb-girdle syndrome MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE)[ghr.nlm.nih.gov] Cardiac and respiratory surveillance are particularly important in LGMD 1B, LGMD 2C-F and LGMD 2I.[patient.info] Autosomal dominant and recessive inheritance have been described. limb-girdle muscular dystrophy n.[medical-dictionary.thefreedictionary.com]

    Missing: VAL300ALA
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2T

    LGMD limb-girdle syndrome myopathic limb-girdle syndrome MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE)[ghr.nlm.nih.gov] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com] To meet others with LGMD2i join the 2i Facebook Group www.facebook.com/groups/LGMD2i/ If you have LGMD2i or an FKRP mutation, please register at The Global FKRP Registry.[lgmd2i.com] Cardiac and respiratory surveillance are particularly important in LGMD 1B, LGMD 2C-F and LGMD 2I.[patient.info] Limb-girdle muscular dystrophy type 1 (LGMD1) Limb-girdle muscular dystrophy type 1 (LGMD1) is inherited in an autosomal dominant manner.[thinkgenetic.com]

    Missing: VAL300ALA
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O

    Term Name: autosomal recessive limb-girdle muscular dystrophy type 2O Search Ontology: Synonyms: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3[zfin.org] To meet others with LGMD2i join the 2i Facebook Group www.facebook.com/groups/LGMD2i/ If you have LGMD2i or an FKRP mutation, please register at The Global FKRP Registry.[lgmd2i.com] Cardiac and respiratory surveillance are particularly important in LGMD 1B, LGMD 2C-F and LGMD 2I.[patient.info] LGMD limb-girdle syndrome myopathic limb-girdle syndrome MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE)[ghr.nlm.nih.gov] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com]

    Missing: VAL300ALA
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q

    For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).[ncbi.nlm.nih.gov] Where to Start Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy type 2I.[rarediseases.info.nih.gov] LGMD limb-girdle syndrome myopathic limb-girdle syndrome MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE)[ghr.nlm.nih.gov] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com] Cardiac and respiratory surveillance are particularly important in LGMD 1B, LGMD 2C-F and LGMD 2I.[patient.info]

    Missing: VAL300ALA