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

The proper function of skeletal muscles relies on their ability to process signals derived from
motor neurons, transmit stimuli along the muscle fibers, contract, and regenerate efficiently …

Objective To develop RNA splicing biomarkers of disease severity and therapeutic response
in myotonic dystrophy type 1 (DM1) and type 2 (DM2). Methods In a discovery cohort, we …

Myotonic dystrophy is an RNA gain-of-function disease caused by expanded CUG or CCUG
repeats, which sequester the RNA binding protein MBNL1. Here we describe a newly …

Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded
CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing …

Mutations affecting the expression of dystrophin result in progressive loss of skeletal muscle
function and cardiomyopathy leading to early mortality. Interestingly, clinical studies …

Abstract Purpose of Review: This article describes clinical and electrical myotonia and
provides an update on the classification, diagnosis, and management of myotonic disorders …

Abstract Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults.
It is caused by the excessive expansion of noncoding CTG repeats, which when transcribed …

Trinucleotide repeat expansion disorders (TRED) are caused by genomic expansions of
trinucleotide repeats, such as CTG and CAG. These expanded repeats are unstable in …

Myotonic dystrophy type 1 is a multisystem genetic disorder involving the muscle, heart and
CNS. It is caused by toxic RNA transcription from expanded CTG repeats in the 3 …