Severe neonatal nemaline myopathy with delayed maturation of muscle. 1996

H Wada, and H Nishio, and M Kugo, and S Waku, and K Ikeda, and S Takada, and R Murakami, and H Itoh, and M Matsuo, and H Nakamura
Department of Pediatrics, Kobe University School of Medicine, Japan.

A Japanese infant with a severe neonatal form of nemaline myopathy showed features of muscle immaturity as well as rods in the biopsied quadriceps femoris muscle, and involvement of diaphragm was first confirmed at autopsy. The biopsied muscle showed numerous rods in 80% of muscle fibers, and an increased number of type 2C fibers (23.2%). Electron microscopic findings were characterized by the presence of many small, immature round fibers with central nuclei and sparse myofibrils, and an increased number of satellite cells in close association with the small muscle fibers, as well as numerous rod structures. These microscopic and electron microscopic findings are interpreted as immature muscle fibers. Maturational delay or arrest implies deprivation of a development promoting factor such as a neuronal signal. Severe involvement with numerous rods was demonstrated in both diaphragm and intercostal muscles at the time of the postmortem examination, compatible with the patient's respiratory failure.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D008854 Microscopy, Electron Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. Electron Microscopy
D012132 Respiratory Muscles These include the muscles of the DIAPHRAGM and the INTERCOSTAL MUSCLES. Ventilatory Muscles,Respiratory Muscle,Muscle, Respiratory,Muscle, Ventilatory,Muscles, Respiratory,Muscles, Ventilatory,Ventilatory Muscle
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017696 Myopathies, Nemaline A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) Myopathy, Nemaline,Myopathy, Rod,Myopathy, Rod-Body,Nemaline Myopathies,Adult Onset Nemaline Myopathy,Autosomal Dominant Nemaline Myopathy,Autosomal Recessive Nemaline Myopathy,Childhood Onset Nemaline Myopathy,Late Onset Nemaline Myopathy,Nemaline Body Disease,Nemaline Myopathy,Nemaline Myopathy, Adult Onset,Nemaline Myopathy, Autosomal Dominant,Nemaline Myopathy, Autosomal Recessive,Nemaline Myopathy, Childhood Onset,Nemaline Myopathy, Late Onset,Nemaline Rod Disease,Rod Body Disease,Rod Myopathy,Rod-Body Myopathy,Myopathies, Rod,Myopathies, Rod-Body,Myopathy, Rod Body,Rod Body Myopathy,Rod Myopathies,Rod-Body Myopathies
D017809 Fatal Outcome Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal
D018482 Muscle, Skeletal A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles. Anterior Tibial Muscle,Gastrocnemius Muscle,Muscle, Voluntary,Plantaris Muscle,Skeletal Muscle,Soleus Muscle,Muscle, Anterior Tibial,Muscle, Gastrocnemius,Muscle, Plantaris,Muscle, Soleus,Muscles, Skeletal,Muscles, Voluntary,Skeletal Muscles,Tibial Muscle, Anterior,Voluntary Muscle,Voluntary Muscles
D018485 Muscle Fibers, Skeletal Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation. Myocytes, Skeletal,Myotubes,Skeletal Myocytes,Skeletal Muscle Fibers,Fiber, Skeletal Muscle,Fibers, Skeletal Muscle,Muscle Fiber, Skeletal,Myocyte, Skeletal,Myotube,Skeletal Muscle Fiber,Skeletal Myocyte
D024510 Muscle Development Developmental events leading to the formation of adult muscular system, which includes differentiation of the various types of muscle cell precursors, migration of myoblasts, activation of myogenesis and development of muscle anchorage. Myofibrillogenesis,Myogenesis,Muscular Development,Development, Muscle,Development, Muscular

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