congenita การใช้

• The characteristic is caused by a hereditary genetic disorder called myotonia congenita.
• This has been identified as a form of Pachyonychia congenita.
• Two patients initially diagnosed with fibromyalgia were subsequently shown to have myotonia congenita.
• Fainting goats have a muscle condition called myotonia congenita.
• They also have a muscle condition called myotonia congenita.
• They have been implicated in some hereditary disorders, such as dyskeratosis congenita.
• X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene.
• Examples of atrophying muscle diseases include muscular dystrophy, myotonia congenita, and myotonic dystrophy.
• This deletion results in a condition called adrenal hypoplasia congenita with complex glycerol kinase deficiency.
• More than 90 NR0B1 mutations that cause X-linked adrenal hypoplasia congenita have been identified.
• When she was a year old, Galena was diagnosed with dyskeratosis congenita of the HH variant.
• Mutations in the gene encoding this protein lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex.
• Another example is the haploinsufficiency of telomerase reverse transcriptase which leads to anticipation in autosomal dominant dyskeratosis congenita.
• The two major types of myotonia congenita are distinguished by the severity of their symptoms and their patterns of inheritance.
• These mutations are also autosomal recessive with three specific single-nucleotide polymorphisms being recognized which result in dyskeratosis congenita.
• Dyskeratosis congenita is reticular skin pigmentation, nail degeneration, and leukoplakia on the mucous membranes associated with short telomeres.
• Telomere deficiency is often linked to aging, cancers and the conditions dyskeratosis congenita ( DKC ) and Cri du chat.
• Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia.
• In myotonia congenita, the term reflects that the disease is genetically present from birth, while the onset may be delayed.
• Dyskeratosis congenita ( DC ) is a disease of the bone marrow that can be caused by some mutations in the telomerase subunits.