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Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap(More)
Eleven patients with untreated inclusion body myositis (IBM) were prospectively studied during a 6-month period that included muscle strength, lean body mass, and muscle mass measurements. There was an overall quantifiable mean decline in percent of predicted normal muscle strength of 4% from baseline in a 6-month period, but one third of patients showed no(More)
INTRODUCTION Trial design for SMA depends on meaningful rating scales to assess outcomes. In this study Rasch methodology was applied to 9 motor scales in spinal muscular atrophy (SMA). METHODS Data from all 3 SMA types were provided by research groups for 9 commonly used scales. Rasch methodology assessed the ordering of response option thresholds, tests(More)
BACKGROUND Because there is no muscle disease specific measure of quality of life (QoL), we wanted to develop and validate an individualized muscle disease specific measure of QoL for adults suitable for both clinical and research use. METHODS A literature review exploring QoL and its measurement resulted in the development of a theoretical model of QoL.(More)
BACKGROUND UK veterans who were deployed to the Gulf in 1990 to 1991 reported higher prevalence of neuromuscular symptoms. OBJECTIVE To investigate whether these Gulf War-related symptoms were associated with objective evidence of neuromuscular dysfunction. METHODS Forty-nine Gulf War veterans with more than four neuromuscular symptoms (Gulf-ill), 26(More)
The skeletal muscle ryanodine receptor plays a crucial role in excitation-contraction (EC) coupling and is implicated in various congenital myopathies. The periodic paralyses are a heterogeneous, dominantly inherited group of conditions mainly associated with mutations in the SCN4A and the CACNA1S genes. The interaction between RyR1 and DHPR proteins(More)
BACKGROUND Quality of life (QoL) assessment allows healthcare professionals to appreciate the patient perspective of their disease. This can help us make a better choice from among the various ways we currently measure the severity of a muscle disease such as inclusion body myositis (IBM). However, we cannot assume that QoL in IBM is just related to disease(More)