Mutations in the C terminus of titin, situated at the M-band of the striated muscle sarcomere,
cause tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy (LGMD) type 2J. …

Objective: To identify the genetic defects present in 3 families with muscular dystrophy,
contractures, and calpain 3 deficiency. Methods: We performed targeted exome sequencing on …

Background— Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy
type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles…

Of the many crucial functions of the ER, homeostasis of physiological calcium increase is
critical for signaling. Plasma membrane (PM) injury causes a pathological calcium influx. Here, …

Recombinant adeno-associated virus (rAAV) is currently the best vector for gene delivery into
the skeletal muscle. However, the 5-kb packaging size of this virus is a major obstacle for …

Limb Girdle Muscular Dystrophies type 2I (LGMD2I), a recessive autosomal muscular
dystrophy, is caused by mutations in the Fukutin Related Protein (FKRP) gene. It has been …

Although most molecular therapy strategies for genetic diseases are based on gene
replacement, interesting alternative approaches target RNA. These strategies rely on the …

The development of medical approaches requires preclinical and clinical trials for assessment
of therapeutic efficacy. Such evaluation entails the use of biomarkers, which provide …

Mutations in the extreme C-terminus of titin (TTN), situated in the sarcomeric M-band, cause
tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy 2J (LGMD2J). The …

Background The complexity of the skeletal muscle and the identification of numerous
human disease-causing mutations in its constitutive proteins make it an interesting tissue for …