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- X-linked_myotubular_myopathy abstract "X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with myotubularin 1.Genetically inherited traits and conditions are often referred to based upon whether they are located on the \"sex chromosomes\" (the X or Y chromosomes) versus whether they are located on \"autosomal\" chromosomes (chromosomes other than the X or Y). Thus, genetically inherited conditions are categorized as being sex-linked (e.g., X-linked) or autosomal. Females have two X-chromosomes while males only have a single X chromosome, and a genetic abnormality located on the X chromosome is much more likely to cause clinical disease in a male (who lacks the possibility of having the normal gene present on any other chromosome) than in a female (who is able to compensate for the one abnormal X chromosome).The X-linked form of MTM/CNM is the most commonly diagnosed type. Almost all cases of X-linked MTM occurs in males. Females can be \"carriers\" for an X-linked genetic abnormality, but usually they will not be clinically affected themselves. Two exceptions for a female with a X-linked recessive abnormality to have clinical symptoms: one is a manifesting carrier and the other is X-inactivation. A manifesting carrier usually has no noticeable problems at birth; symptoms show up later in life. In X-inactivation, the female (who would otherwise be a carrier, without any symptoms), actually presents with full-blown X-linked MTM. Thus, she congenitally presents (is born with) MTM.Thus, researchers point out that although MTM1 mutations most commonly cause problems in boys, these mutations can also can clinical myopathy in girls, for the reasons noted above. Thus, experts recommend that girls with myopathy and a muscle biopsy showing a centronuclear pattern be tested for MTM1 mutations.Many clinicians and researchers use the abbreviations XL-MTM, XLMTM or X-MTM to emphasize that the genetic abnormality for myotubular myopathy (MTM) is X-linked (XL), having been identified as occurring on the X chromosome. The specific gene on the X chromosome is referred to as MTM-1. It is theoretically possible that some cases of CNM may be caused by an abnormality on the X chromosome, but located at a different site than the gene MTM1, but currently MTM1 is the only X-linked genetic mutation site identified for myotubular or centronuclear myopathy. Clinical suspicion for X-linked inheritance would be a disease affecting multiple boys (but no girls) and a pedigree chart showing inheritance only through the maternal (mother’s) side of each generation. To date, the only X-linked mutation site causing centronuclear myopathy is the MTM1 gene.".
- X-linked_myotubular_myopathy wikiPageExternalLink www.mtm-cnm.org.
- X-linked_myotubular_myopathy wikiPageExternalLink br.fcgi?book=gene&part=mtm.
- X-linked_myotubular_myopathy wikiPageExternalLink www.znm-zusammenstark.org.
- X-linked_myotubular_myopathy wikiPageID "24072395".
- X-linked_myotubular_myopathy wikiPageLength "4039".
- X-linked_myotubular_myopathy wikiPageOutDegree "10".
- X-linked_myotubular_myopathy wikiPageRevisionID "695488201".
- X-linked_myotubular_myopathy wikiPageWikiLink Allosome.
- X-linked_myotubular_myopathy wikiPageWikiLink Autosome.
- X-linked_myotubular_myopathy wikiPageWikiLink Category:Myoneural_junction_and_neuromuscular_diseases.
- X-linked_myotubular_myopathy wikiPageWikiLink Centronuclear_myopathy.
- X-linked_myotubular_myopathy wikiPageWikiLink Generation.
- X-linked_myotubular_myopathy wikiPageWikiLink Maternal_bond.
- X-linked_myotubular_myopathy wikiPageWikiLink Myotubularin_1.
- X-linked_myotubular_myopathy wikiPageWikiLink Pedigree_chart.
- X-linked_myotubular_myopathy wikiPageWikiLink Sex_linkage.
- X-linked_myotubular_myopathy wikiPageWikiLink X-inactivation.
- X-linked_myotubular_myopathy wikiPageWikiLinkText "X-linked myotubular myopathy".
- X-linked_myotubular_myopathy name "X-linked myotubular myopathy".
- X-linked_myotubular_myopathy omim "310400".
- X-linked_myotubular_myopathy wikiPageUsesTemplate Template:Deficiencies_of_intracellular_signaling_peptides_and_proteins.
- X-linked_myotubular_myopathy wikiPageUsesTemplate Template:Diseases_of_myoneural_junction_and_muscle.
- X-linked_myotubular_myopathy wikiPageUsesTemplate Template:Infobox_Disease.
- X-linked_myotubular_myopathy wikiPageUsesTemplate Template:Reflist.
- X-linked_myotubular_myopathy wikiPageUsesTemplate Template:X-linked_disorders.
- X-linked_myotubular_myopathy subject Category:Myoneural_junction_and_neuromuscular_diseases.
- X-linked_myotubular_myopathy hypernym Form.
- X-linked_myotubular_myopathy type Disorder.
- X-linked_myotubular_myopathy comment "X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with myotubularin 1.Genetically inherited traits and conditions are often referred to based upon whether they are located on the \"sex chromosomes\" (the X or Y chromosomes) versus whether they are located on \"autosomal\" chromosomes (chromosomes other than the X or Y). Thus, genetically inherited conditions are categorized as being sex-linked (e.g., X-linked) or autosomal.".
- X-linked_myotubular_myopathy label "X-linked myotubular myopathy".
- X-linked_myotubular_myopathy sameAs Q3331454.
- X-linked_myotubular_myopathy sameAs Myopathie_congénitale_myotubulaire.
- X-linked_myotubular_myopathy sameAs m.07k9355.
- X-linked_myotubular_myopathy sameAs Q3331454.
- X-linked_myotubular_myopathy wasDerivedFrom X-linked_myotubular_myopathy?oldid=695488201.
- X-linked_myotubular_myopathy isPrimaryTopicOf X-linked_myotubular_myopathy.