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240 Possible Causes for Mutation in the Titin Gene, Persistent Notochordal Canal, Proximal Muscle Weakness Limb Girdle Distribution

  • 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]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Limb-Girdle Muscular Dystrophy

    Exome sequencing was conducted and a novel mutation c.107788T C (p.W35930R) in the titin gene (TTN) was identified.[ncbi.nlm.nih.gov] LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles.[ncbi.nlm.nih.gov] Introduction Limb girdle muscular dystrophy (LGMD) is a muscular dystrophy with predominantly proximal distribution of weakness that spares the distal, facial, and extraocular[circheartfailure.ahajournals.org]

    Missing: Persistent Notochordal Canal
  • 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: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • 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: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • X-linked Distal Spinal Muscular Atrophy Type 3

    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] ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene. Vet J. 2015;204(1):128-129.[aetna.com]

    Missing: 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: Proximal Muscle Weakness Limb Girdle Distribution
  • 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: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • 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: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Emery-Dreifuss Muscular Dystrophy Type 2

    An 11-bp indel mutation in the last titin exon causes tibial muscular dystrophy and Gerull et al. (49) showed that a 2-bp insertion in exon 326 of the TTN gene causes autosomal[docksci.com] ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.[bloogmberg.tk]

    Missing: 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: Proximal Muscle Weakness Limb Girdle Distribution

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