Caused by Mutations in the Myotilin Gene: Causes & Reasons

Possible Causes for Caused by Mutations in the Myotilin Gene

Muscular Dystrophy-Dystroglycanopathy Type C7

LGMDIA - LGMDIA may be caused by mutations in the myotilin (MYOT) gene at chr. 5q31.2. The cDNA is of 2.2 kb and contains 10 exons. [archive.org]

gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)Journal of Neurology258814371444 71 Maggi L, D’Amico A, Pini A, Sivo S, Pane M, Ricci G2014LMNA-associated [content.iospress.com]

Sometimes, they correspond to particular cases of mutations in genes involved in other disorders, such as myotilin, lamin A/C or caveolin 3 (Table 1). [archive.org]

Myofibrillar Myopathy Type 3

Abstract Mutations in the human myotilin gene may cause limb-girdle muscular dystrophy 1A and myofibrillar myopathy. [pubmed.ncbi.nlm.nih.gov]

In about 10 % of patients, the disease is caused by mutations in the MYOT gene encoding myotilin. [actaneurocomms.biomedcentral.com]

The Markesbery-Griggs and Udd types are autosomal dominant late-onset distal leg myopathies caused by mutations in the genes encoding Z disk associated protein (ZASP) and [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 1H

Among the AD forms, LGMD1A caused by mutations in the TTID gene encoding myotilin on chromosome 5q31 is characterised by the presence of dysarthric speech – which probably [doi.org]

Myofibrillar Myopathy Type 4

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.es]

Mutations of several other Z-disk related proteins, such as desmin, alfa-B-crystallin and myotilin can cause disorders similar to zaspopathy. [en.wikipedia.org]

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998; 20 (1): 92-5[ DOI ][ PubMed ] 6. Selcen D, Engel AG. [genecelltissue.com]

Autosomal Dominant Myosin Storage Myopathy

[…] identified in the skeletal muscle actin gene; the identification of mutations in myosin causing hereditary inclusion body myopathy and hyaline body myopathy and the identification [journals.lww.com]

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]

[…] of mutations in myotilin in myofibrillar myopathy. [journals.lww.com]

Congenital Myopathy with Excess of Thin Filaments

[…] be caused by mutation of genes involving a-b-crystallin, selenoprotein N1, myotilin, or g-filamin. [reliasmedia.com]

Among them, LGMD1A is caused by mutations in the MYOT gene encoding myotilin, a Z-disk associated alpha-actinin-binding protein involved in the structural integrity of sarcomeres [intechopen.com]

Although a-actinin is a major protein of the Z-band and present in aggregates of Z-disk material or nemaline bodies/rods, mutations in the respective actinin gene have not [bioline.org.br]

Limb-Girdle Muscular Dystrophy Type 1G

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Supporting this observation, only missense mutations were found so far in the myotilin, lamin A/C and caveolin-C genes, responsible respectively for LGMD1A, 1B and 1C (data [doi.org]

Emery-Dreifuss Muscular Dystrophy Type 2

LGMDIA - LGMDIA may be caused by mutations in the myotilin (MYOT) gene at chr. 5q31.2. The cDNA is of 2.2 kb and contains 10 exons. [archive.org]

Key words: Limb-girdle muscular dystrophies, LGMD, NGS LGMD1A - LGMD1A may be caused by mutations in the myotilin (MYOT) gene at chr. 5q31.2. [docksci.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Limb-Girdle Muscular Dystrophy Type 1E

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Comments 1A myotilin Adult no yes – very rare – mutations in this gene also cause myofibrillar myopathy – speech and swallowing difficulties common 1B lamin A/C 5 to 20 years [mda.org.au]

Muscular Dystrophy-Dystroglycanopathy Type C4

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Limb-Girdle Muscular Dystrophy Type 2Q

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Muscular Dystrophy-Dystroglycanopathy Type C5

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 2L

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Myosin Storage Myopathy

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.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]

Mutations in myotilin cause myofibrillar myopathy. Neurology 2004; 62:1363-1371. 6. Emery AEH. The muscular dystrophies. Lancet 2002; 359:687-695 (see OMIM 150330). 7. [books.google.de]

Limb-Girdle Muscular Dystrophy Type 2E

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Limb-Girdle Muscular Dystrophy Type 2F

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Limb-Girdle Muscular Dystrophy Type 2J

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Limb-Girdle Muscular Dystrophy Type 2G

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 2A

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Nemaline Myopathy Type 5

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]

A mutation in myotilin causes spheroid body myopathy. Neurology. 2005 Dec 27. 65(12):1936-40. [Medline]. [emedicine.medscape.com]

Mutations in myotilin cause myofibrillar myopathy. Neurology 2004; 62:1363-1371. 6. Emery AEH. The muscular dystrophies. Lancet 2002; 359:687-695 (see OMIM 150330). 7. [books.google.com]

Alpha-B Crystallinopathy

The laser capture microdissection coupled with mass spectrometry has been used successfully to identify the causative genes in other myopathies featuring protein aggregates [ng.neurology.org]

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Mutations in the myotilin gene, MYOT, are rare causes of myofibrillar myopathy (see Figs. 16.1–16.6 and 16.9 a–e ) but also have been identified in limb-girdle muscular dystrophy [musculoskeletalkey.com]

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]

Genetic Heterogeneity of Myofibrillar Myopathy Other forms of MFM include MFM2 (608810), caused by mutation in the CRYAB gene (123590); MFM3 (609200) (182920), caused by mutation [ncbi.nlm.nih.gov]

Mutations in myotilin cause myofibrillar myopathy. Neurology 2004; 62:1363-1371. 6. Emery AEH. The muscular dystrophies. Lancet 2002; 359:687-695 (see OMIM 150330). 7. [books.google.com]

Zebra Body Myopathy

[…] be caused by mutation of genes involving a-b-crystallin, selenoprotein N1, myotilin, or g-filamin. [ahcmedia.com]

Although a-actinin is a major protein of the Z-band and present in aggregates of Z-disk material or nemaline bodies/rods, mutations in the respective actinin gene have not [bioline.org.br]

For example, the presence of cap-like areas is associated with several genes (see below); zebra body myopathy is caused by a mutation in the ACTA1 gene encoding skeletal actin [musculoskeletalkey.com]

Congenital Fiber-Type Disproportion Myopathy

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]

A mutation in myotilin causes spheroid body myopathy. Neurology. 2005 Dec 27. 65(12):1936-40. [Medline]. [emedicine.medscape.com]

Mutations in myotilin cause myofibrillar myopathy. Neurology 2004; 62:1363-1371. 6. Emery AEH. The muscular dystrophies. Lancet 2002; 359:687-695 (see OMIM 150330). 7. [books.google.com]

Muscular Dystrophy-Dystroglycanopathy Type C3

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Limb-Girdle Muscular Dystrophy

[…] by mutations in the myotilin ( MYOT ) gene at chr. 5q31.2. [ncbi.nlm.nih.gov]

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A) J Neurol. 2011; 258 :1437–1444. [ PubMed ] [ Google Scholar [ncbi.nlm.nih.gov]

Sarcotubular Myopathy

Myotilinopathy (MFM3) is caused by mutations on chromosome 5 in the myotilin gene (see LGMD1A). [emedicine.medscape.com]

Autosomal dominant LGMD LGMD1A is caused by mutations on chromosome 5 in the myotilin gene. Several different missense mutations have been identified. [emedicine.medscape.com]

BCL2-associated athanogene 3 myopathy (MFM6) is caused by a mutation on the BAG3 gene and has been described in a few patients. [48, 49] The BAG family of proteins bind to [emedicine.medscape.com]

Limb-Girdle Muscular Dystrophy Type 2C

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Limb-Girdle Muscular Dystrophy Type 2B

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. (1998). doi:10.1038/ng0498-365 Hauser, M. A. [mda.org]

Muscular Dystrophy-Dystroglycanopathy Type C1

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). [ncbi.nlm.nih.gov]

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy type 2H. [ncbi.nlm.nih.gov]