Anagrammi & Informazioni su | Parola Inglese MYOTONIC

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Esempi di utilizzo di MYOTONIC in una frase

• Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy.
• Anticipation is common in trinucleotide repeat disorders, such as Huntington's disease and myotonic dystrophy, where a dynamic mutation in DNA occurs.
• Other important differential characteristics of the myotonic goat include their high trainability, stiffness, high quality adaptation to low-input farm land and foraging, and cross-breeding creating hybrids leading to physical strength and good health.
• A similar mechanism, involving triplet repeats, underlies myotonic dystrophy, spinocerebellar ataxia and Huntington's disease.
• Mexiletine has been used to treat chronic pain and may also be used to treat muscle stiffness resulting from myotonic dystrophy (Steinert's disease) or nondystrophic myotonias such as myotonia congenita (Thomsen syndrome or Becker syndrome).
• Other human diseases in which triplet repeat expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia.
• Later storylines have included Jim escaping from prison, Liz divorcing him for a second time, his attack on Liz's new husband Vernon Tomlin (Ian Reddington), being imprisoned for attempted robbery of a building society, being diagnosed with the degenerative illness myotonic dystrophy, and concocting a plan to swindle Liz out of her money by pretending he had found their daughter Katie.
• Expanded CAG/CTG repeat tracts are the genetic basis for more than a dozen inherited neurological disorders including Huntington's disease, myotonic dystrophy, and several spinocerebellar ataxias.
• These causes include uveitis, interstitial keratitis, superficial keratitis, phthisis, sarcoidosis, trauma, intraocular silicone oil, systemic diseases (high levels of calcium in the blood, vitamin D intoxication, Fanconi's Syndrome, low levels of phosphorus in the blood, gout, milk-alkali syndrome, myotonic dystrophy, and chronic mercury exposure).
• congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery–Dreifuss muscular dystrophies.
• Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMPK) is an enzyme that in humans is encoded by the DMPK gene.
• Myotonin-protein kinase, that is, dystrophia myotonica 1 or dystrophia myotonica protein kinase, a ubiquitous protein whose abnormal expression is associated with myotonic dystrophy in ways not yet well understood.
• In the meantime Hiya was diagnosed as having Myotonic Dystrophy-a genetic disorder, by her Gynaecologist Dr.
• Ross' syndrome consists of Adie's syndrome (myotonic pupils and absent deep tendon reflexes) plus segmental anhidrosis (typically associated with compensatory hyperhidrosis).
• Gowers's sign is classically seen in Duchenne muscular dystrophy where it is mostly evident at 4–6 years, but also presents itself in centronuclear myopathy, myotonic dystrophy and various other conditions associated with proximal muscle weakness, including Becker muscular dystrophy, dermatomyositis and Pompe disease.
• The company targets genetic disorders with a large unmet medical need, with a primary focus on neuromuscular and neurodegenerative disorders such as Duchenne muscular dystrophy (DMD), myotonic dystrophy, and Huntington's disease.
• Autosomal dominant and recessive single gene disorders which have been diagnosed prenatally by analysing paternally inherited DNA include cystic fibrosis, beta thalassemia, sickle cell anemia, spinal muscular atrophy, and myotonic dystrophy.
• Flightless fly models have been especially useful for the study of human neuromuscular diseases such as spinal muscular atrophy, spinobulbar muscular atrophy, myotonic dystrophy, dystrophinopathies and other inherited neuromuscular diseases.
• This mutational mechanism is now known to cause not only Fragile X syndrome and Myotonic dystrophy, but also Huntington's disease and many of the spinocerebellar ataxias.
• There are currently no established treatments, but, one study, focused on myotonic dystrophy type 1, suggests that the use of antisense oligonucleotides (ASOs) known as gapmers can aid in decreasing the mutant RNA repeat transcripts.
• These include, but not limited to, fragile X syndrome (FXS), spinocerebellar ataxias (SCAs), Huntington's disease (HD), myotonic dystrophy type 1 and 2 (DM1&DM2), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS).

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