نتایج جستجو برای: metabolic myopathy
تعداد نتایج: 230155 فیلتر نتایج به سال:
Fibrotic myopathy of the iliopsoas muscle developed in a dog, following extensive migration of a grass awn within the muscle and adjacent subcutaneous tissue. The dog was initially presented for evaluation of a fluctuant swelling over the right flank region. The clinical and imaging findings were suggestive of iliopsoas fibrotic myopathy and the diagnosis was confirmed by histopathology. This i...
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year l...
INTRODUCTION Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family. RESULTS We detail the mutational, neur...
RATIONALE We report a case of acute steroid myopathy in a patient with eczema receiving one dose of intra-muscular injection of Compound betamethasone. PATIENT CONCERNS Acute steroid myopathy (ASM) is usually caused by exogenous corticosteroids, and typically, occurs with therapy using intravenous corticosteroids at high doses. DIAGNOSES The patient was considered as a diagnosis of acute st...
Critical illness polyneuropathy and critical illness myopathy are frequent complications of severe illness that involve sensorimotor axons and skeletal muscles, respectively. Clinically, they manifest as limb and respiratory muscle weakness. Critical illness polyneuropathy/myopathy in isolation or combination increases intensive care unit morbidity via the inability or difficulty in weaning the...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. We have identified five novel heterozygous mutations--Arg1500Pro, Lys1617del, Ala...
Myopathies that occur in the intensive care unit can be divided into preexisting myopathies or newly acquired myopathies that develop in the intensive care unit. Myotonic dystrophy is an example of a preexisting myopathy that may render patients susceptible to acute respiratory failure following surgical procedures and anaesthesia. A group of myopathies that develop within the intensive care un...
Mutations in mitochondrial DNA (mtDNA) are the most frequent causes of mitochondrial myopathy in adults. In the majority of cases mutant and wild-type mtDNAs coexist, a condition referred to as mtDNA heteroplasmy; however, the relative frequency of each species varies widely in different cells and tissues. Nearly complete segregation of mutant and wild-type mtDNAs has been observed in the skele...
PURPOSE OF REVIEW The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. This article provides an overview of the most common metabolic myopathies. RECENT FINDINGS Our knowledge of metabolic myopathies has expanded rapidly in recent years, providing us with...
BACKGROUND We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic fe...
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