Sentences with phrase «congenital myopathies»
"Congenital myopathies" refers to a group of rare disorders that affect the muscles from birth. These conditions are caused by genetic abnormalities or mutations, and they can cause muscle weakness, poor muscle tone, and difficulty with movement. Full definition
The RyR1 is of fundamental importance for the development of muscle force and a decrease in its content may be causally linked to the profound muscle weakness seen in patients with some forms of congenital myopathies linked to recessive RYR1 mutations.
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Abstract Type 1 ryanodine receptor (RyR1) is preferentially expressed in skeletal muscle, and mutations in the gene have been associated with malignant hyperthermia, a pharmacogenetic disease, and with several congenital myopathies, including central core disease, multiminicore disease, centronuclear myopathy, congenital fibre type disproportion.
The lack of specific morphological changes in muscle and peripheral nerve biopsies excluded an underlying congenital myopathy or neuropathy.
University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according...
The major categories of these devastating wasting diseases include: muscular dystrophy, congenital myopathy and metabolic myopathy.
Myofiber size was appropriate in all muscles evaluated and no specific abnormalities were identified, making a congenital myopathy unlikely.