Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy,
caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′ UTR) of the …

Myotonic Muscular Dystrophies : CONTINUUM: Lifelong Learning in Neurology Account
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Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary
neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 …

Expansions of simple sequence repeats, or microsatellites, have been linked to∼ 30
neurological–neuromuscular diseases. While these expansions occur in coding and …

Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …

Embryonic myogenesis is a temporally and spatially regulated process that generates
skeletal muscle of the trunk and limbs. During this process, mononucleated myoblasts …

Cells have many types of actin structures, which must assemble from a common monomer
pool. Yet, it remains poorly understood how monomers are distributed to and shared …

Background Skeletal muscles express a highly specialized proteome that allows the
metabolism of energy sources to mediate myofiber contraction. This muscle-specific …

Abstract Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong
genetic anticipation, and is caused by the expansion of a CTG repeat tract in the 3′-UTR of …

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited
neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and …