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Abstract
Myofibrillar myopathies are a group of heterogeneous genetic myopathies that share distinct muscle pathology features. Age of symptom onset is variable, but many cases are of adult onset and the onset is often late. The disease may predominantly affect distal limb muscles especially the lower limbs. Serum creatine kinase level is normal or mildly elevated. Electromyography often shows myopathic changes in the affected muscles. A superimposed distal polyneuropathy is common. Cardiac involvement is also common, which requires a thorough cardiac evaluation and management. Muscle biopsy plays a key role in the diagnosis of a myofibrillar myopathy. Subsequent genetic testing can identify genetic causes in many patients but not all. Management is mainly supportive. Here we present a case of myofibrillar myopathy to illustrate the disease and muscle pathology features.
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Authors and Affiliations
Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA
Lan Zhou
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Chunyu Cai
- Lan Zhou
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- Chunyu Cai
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Correspondence toLan Zhou.
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Editors and Affiliations
Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA
Lan Zhou
Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA
Dennis K. Burns
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Chunyu Cai
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Zhou, L., Cai, C. (2020). A 65-Year-Old Man with Asymmetrical Leg Weakness and Foot Tingling. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_17
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