PURPOSE OF REVIEW Congenital muscular dystrophies and congenital myopathies are a
heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic …

Type VI collagen (collagen VI) is an obligate extracellular matrix component found mainly in
the basement membrane region of many mammalian tissues and organs, including skeletal …

Skeletal muscle function relies on the myofibrillar apparatus inside myofibers as well as an
intact extracellular matrix surrounding each myofiber. Muscle extracellular matrix (ECM) …

Collagen VI (COL6) is known for its role in a spectrum of congenital muscular dystrophies,
which are often accompanied by respiratory dysfunction. However, little is known regarding …

X-linked myotubular myopathy (XLMTM) is a rare hereditary disorder of the skeletal muscle.
Symptoms include impaired respiration and muscular hypotonia, usually present at birth and …

Background With the advancement of cardiorespiratory interventions, the survival rate
among patients with Duchenne muscular dystrophy (DMD) has increased. Subsequently …

Diaphragmatic rupture is almost always iatrogenic with variable presentation. It should be
diagnosed with high suspicion index in blunt thoracic trauma cases. Muscular dystrophy is …

We present the case of a 19-year-old female with Ullrich congenital muscular dystrophy
(UCMD1, a collagen VI defect) who developed a right-sided pneumothorax after choking on …

My underlying diagnosis since birth was congenital muscular dystrophy not otherwise
specified. Being born in 1970 meant that there were no genetic testing, no standards of care …

Introduction: Diaphragmatic rupture is almost always iatrogenic with variable presentation. It
should be diagnosed with a high suspicion index in blunt thoracic trauma cases. Muscular …