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234 Possible Causes for Loss of Ambulation between Third and Sixth Decade, Mutation in the Titin Gene, Persistent Notochordal Canal

  • Limb-Girdle Muscular Dystrophy Type 2J

    […] in the titin gene (TTN).[informatics.jax.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] LGMD 2J is caused by mutation in the titin gene on chromosome 2q31.2.[annalsofian.org]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    This process is usually due to mutations in the TTN (titin) gene, located on the long arm of chromosome 2 (2q31.2); however, in rare cases, people with the characteristics[ivami.com] HMERF is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin.[ghr.nlm.nih.gov] It is exclusively caused by a mutation in the TTN gene that encodes the 119th FN3 domain of titin.[neurology.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Muscular Dystrophy-Dystroglycanopathy Type C7

    […] in the titin gene (TTN).[informatics.jax.org] […] limb-girdle, type 2J Alt IDs: OMIM:608807 , ICD10CM:G71.0, ORDO:140922 Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation[informatics.jax.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Alpha-B Crystallinopathy

    The diagnosis was confirmed by gene analysis showing a heterozygous titin gene ( TTN ) mutation g.284701T C (p.Cys31712Arg) in the FN3 119 domain in the A-band region (ENST00000589042[path.upmc.edu] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] LGMD2J is caused by mutations on chromosome 2 in the titin gene.[emedicine.medscape.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Limb-Girdle Muscular Dystrophy Type 2A

    LGMDR10 ({608807}), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN; {188840}) on 2q31.[diseaseinfosearch.org] […] in the titin gene (TTN).[informatics.jax.org] LGMD 2J is caused by mutation in the titin gene on chromosome 2q31.2.[annalsofian.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Dilated Cardiomyopathy Type 2B

    Tibial muscular dystrophy is a titinopathy caused by mutations in TT N, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002; 71:492-500. 5.[books.google.com] The TTN gene mutations that cause familial dilated cardiomyopathy result in the production of an abnormally short titin protein.[ghr.nlm.nih.gov] Whereas homozygous mutation of the titin gene result in the autosomal recessive, severe, early onset 2J form of limb-girdle muscular dystrophy, heterozygosity for the same[books.google.com]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Optic Atrophy-Intellectual Disability Syndrome

    Furthermore, an UpToDate review on “Genetics of dilated cardiomyopathy” (Hershberger, 2016b) states that “Mutations in the TTN gene encoding titin, the largest human protein[aetna.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene. Vet J. 2015;204(1):128-129.[aetna.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure.[ncl.ac.uk] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Nemaline Myopathy

    Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 1. 81(14):1205-14. [Medline].[emedicine.medscape.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Spheroid body myopathy This myopathy is due to an autosomal dominant mutation in the gene for myotilin (titin immunoglobulin domain protein; TTID ), which also causes LGMD[emedicine.medscape.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Limb-Girdle Muscular Dystrophy Type 2G

    […] in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J Wen Zheng , Han Chen , Xiong Deng , Lamei Yuan , Yan Yang , Zhi Song , Zhijian Yang , Yuan Wu[nature.com] LGMD 2J is caused by mutation in the titin gene on chromosome 2q31.2.[annalsofian.org] When only one titin gene mutation is present, distal myopathy can result. LGMD2J has been reported in Finnish individuals.[rarediseases.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal

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