Muscular Anomalies

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.

Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. Antibodies raised to seven different regions spanning most of the protein were used for immunocytochemistry. In all patients specific dystrophin staining anomalies were detected and correlated with clinical severity...

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

INTRODUCTION Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However, in patients with Duchenne muscular dystrophy, stem cell therapy still remains experimental. CASE PRESENTATION ...

Multiple musculovascular anomalies in the superior extremities of a cadaver: a case report.

During the evolution from the lower animals to man, the upper limbs have acquired a great mobility, but at the cost of their stability. The reverse is true for the lower limbs. The muscular anomalies which are common in the upper limbs are largely explainable on a phylogenetic basis. The same is true for the vascular anomalies. However, such anomalies are usually seen singly and they are never ...

Multiple muscular variations in the neck region--case study.

During routine educational dissection studies, we encountered multiple muscular anomalies in a 25-year-old embalmed male cadaver. The muscular anomalies were observed on the right side. In accordance with their origin, insertion and innervation features, the abnormal muscles were considered sternocleidooccipital, sternomastoid and cleidomastoid muscles. The unilateral muscle variations were obs...

Muscular Anomalies

Unusual Case of an Arterial Thoracic Outlet Syndrome due to Srb Anomaly

A thoracic outlet syndrome (TOS) is caused by arterial or nervous obstruction because of skeletal or muscular anomalies and hypertrophies. Congenital rib anomalies occur with low incidences (0.15-0.31%), predominantly affect the right side and are normally diagnosed at a young age or remain asymptomatic throughout life. Here, we report on the unusual case of a 71-year-old female patient with su...