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OBJECTIVE Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. METHODS DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf(More)
OBJECTIVES To define the clinical, electrophysiological, and pathologic features of the myopathy associated with the use of HMG CoA reductase inhibitors. METHODS Five patients with myopathy associated with HMG CoA reductase inhibitors were evaluated. Complete histories, physical examinations, manual muscle testing, serum creatine kinase, urine myoglobin(More)
Historically, heart, liver, and kidney biopsies were performed to demonstrate amyloid deposits in amyloidosis. Since the clinical presentation of this disease is so variable and non-specific, the associated risks of these biopsies are too great for the diagnostic yield. Other sites that have a lower biopsy risk, such as skin or gingival, are also relatively(More)
BACKGROUND Cyclic vomiting syndrome (CVS) is a functional gastrointestinal disorder that is characterized by recurrent episodes of intense vomiting. There are several postulated mechanisms involved in its pathogenesis and one potential explanation for this disorder may be linked to autonomic dysfunction. The aim of our study was to evaluate autonomic nerve(More)
OBJECTIVE To examine the neurologic cinematographic contributions of Gheorghe Marinescu. BACKGROUND Near the end of the 19th century, cinematography developed and was immediately recognized as a new technique applicable to medical documentation. After studying with several prominent European neurologists and deeply influenced by Jean-Martin Charcot,(More)
For the past approximately six decades, electrodiagnostic testing orelectrodiagnosis (EDX) has played an increasingly important role in the clinical evaluation of patients who have neuromuscular disorders. This in part is because of a greater understanding of the pathophysiology of these disorders. Also of importance is the development of the techniques(More)
Dysautonomias are a heterogeneous group of disorders with pathologic changes confined to the central nervous system, the peripheral nervous system or both, depending on the underlying condition [1–3]. Autonomic dysfunction, including postural tachycardia syndrome (POTS), Parkinson's disease, multiple system atrophy and autonomic neuropathies are major(More)
We present a case of Ehlers-Danlos Syndrome (EDS) type IV with associated neuromuscular manifestations. The patient presented with nonspecific myopathic-type symptoms and later developed a spontaneous median mononeuropathy in the forearm. We believe that the case presented here complements current published neuromuscular manifestations occurring in EDS IV(More)
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