Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically
inherited myopathies in adults. It is characterized by incomplete penetrance and variable …

Recent years have seen steady progress in the identification of genetic muscle diseases as
well as efforts to develop treatment for these diseases. Consequently, sensitive and …

Muscle fat infiltration (MFI) of the deep cervical spine extensors has been observed in
cervical spine conditions using time-consuming and rater-dependent manual techniques …

Background Only a few studies have reported muscle imaging data on small cohorts of
patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle …

Human genes have a variable length. Those having a coding sequence of extraordinary
length and a high number of exons were almost impossible to sequence using the traditional …

Muscle imaging has progressively gained popularity in the neuromuscular field. Together
with detailed clinical examination and muscle biopsy, it has become one of the main tools for …

Recent years have seen the increasing use of clinical imaging in the evaluation of muscle
disease. As therapeutic interventions in the muscular dystrophies are being developed …

The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-
Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy. In these …

Striated muscle laminopathies (SMLs) are a group of rare inherited neuromuscular and
cardiac disorders due to mutations in the LMNA gene encoding A-type lamins [1]. They …

En la enfermedad de Pompe, la acumulación progresiva de glucógeno en el músculo
culmina con la pérdida progresiva de fibras musculares y la sustitución del tejido muscular …