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1. 先天性ミオパシーcongenital myopathies [show details]
… The cores are central or slightly eccentric in location and may be single or multiple in a specific fiber.… Central core disease (also called central core disease of muscle) was the first specific congenital myopathy to be recognized. Central core disease typically presents…
2. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要overview of peripheral nerve and muscle disorders causing hypotonia in the newborn [show details]
…and spinal cord and of other systemic conditions (eg, Prader-Willi syndrome, Angelman syndrome, multiple minor congenital anomaly syndromes, or inborn errors of metabolism) are presented elsewhere. … that is greater proximally than distally. The most common diseases are nemaline myopathy, central core disease, myotubular myopathy, congenital fiber type disproportion, and multicore myopathy. The …
3. 脊髄性筋萎縮症spinal muscular atrophy [show details]
…hypotonia, often with areflexia, facial diplegia, and congenital heart defects . Arthrogryposis (multiple joint contractures) may be present. No motor milestones are achieved. Death occurs from respiratory … present at birth. Congenital myopathies — Congenital myopathies (eg, nemaline myopathy, central core disease, myotubular myopathy, and congenital fiber type disproportion) present with hypotonia and …
4. ケラトアカントーマ：疫学、危険因子、および診断keratoacanthoma epidemiology risk factors and diagnosis [show details]
… Treatment with ionizing radiation has also been linked with the development of multiple KAs in a patient with multiple self-healing squamous epithelioma (MSSE, also known as Ferguson-Smith disease) . …
5. 皮膚の良性病変の概要overview of benign lesions of the skin [show details]
… Multiple clustered dermatofibroma is an extremely rare variant of dermatofibroma. It presents as a plaque composed of multiple (>15) individual reddish… but differ by having a central "core" that is hyperkeratotic and often painful Corns…