Long-term patterns of gender imbalance in an industry without ability or level of interest differences.

Female representation has been slowly but steadily increasing in many sectors of society. One sector where one would expect to see gender parity is the movie industry, yet the representation of females in most functions within the U.S.

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

To determine incidence and type of major cardiac adverse events in patients with mutated desmin (DES) gene, we retrospectively reviewed baseline medical information, and examined the long-term outcomes of 28 DES patients (17 men, baseline mean age=37.7±14.4 years [min=9, max=71]) from 19 families.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Objective: Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype-phenotype correlations.

Methods: Patients were classified into 3 groups: early-severe (18%), moderate-progressive (53%), and mild (29%).

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Objective: To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutations in the dystrophin gene. Female patients with heterozygous mutations may be manifesting carriers.

Unsatisfactory outcomes in myasthenia gravis: influence by care providers.

Myasthenia gravis (MG) can be difficult to treat despite an available therapeutic armamentarium. Our aim was to analyze the factors leading to unsatisfactory outcome (UO). To this end we used the Myasthenia Gravis Foundation of America classification system.

[The role of pathology in neuromuscular diseases].

Myopathies are rare diseases. They may be genetic (muscular dystrophies, metabolic or congenital myopathies) or acquired (inflammatory, drug-related or toxic myopathies and those due to systemic disease). Muscular abnormalities secondary to affections of the peripheral nervous system or anterior horn are not strictly speaking myopathies.

Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders.

The decremental response of the compound muscle action potential (CMAP) to provocative tests is not characterized in genetically verified myotonic disorders. We therefore studied the relationship between decremental responses and mutation type in 10 patients with recessive myotonia congenita (rMC), two with paramyotonia congenita (PMC), nine with myotonic dystrophy type 1 (DM1), four with DM2, and 14 healthy people. CMAPs were measured at rest, just after a short exercise test (SET), and during short, 5- and 10-HZ, repetitive nerve stimulation (RNS) trains at 32 degrees C and at 20 degrees C.

[Myasthenia gravis: treatments and remissions].

Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction, due to the binding of autoantibodies to the nicotinic acetylcholine receptor (AChR), or more rarely to a muscle specific kinase (MuSK). It affects most of the time young women and old patients, with a tendency toward increasing incidence and prevalence. Clinical presentation, with fluctuating weakness of ocular, facial and bulbar muscles has a wide range of severity.

Eosinophilic perimyositis as the presenting feature of a monoclonal T-cell expansion.

A 51-year-old physically active man was investigated for exertional myalgias and muscle stiffness. On examination he had mild proximal muscle weakness of the upper extremities and retraction of the digit flexors. Blood eosinophilia was present, but serum creatine kinase (CK) levels and an electromyographic study were normal.

Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy.

Background: The clinical manifestations of CMTX have been well described but the natural history has not yet been studied in detail. We studied phenotype variability in a family with a Pro 87 to Leu mutation of the connexin 32 (Cx32) gene.

Methods: A total of 32 family members, of which 19 patients were affected, underwent clinical, electrophysiological, and genetic studies.