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Centronuclear myopathies: A widening concept
Neuromuscular Disorders, 2010Centronuclear myopathies (CNM) are a group of congenital myopathies classically defined by the presence of an abnormally high number of muscle fibres with nuclei organised in rows in the central part of the fibre. Over recent years there have been important advances in the knowledge of the genetic bases of the three main forms of CNM: the X-linked ...
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Centronuclear Myopathy with Unusual Clinical Picture
European Neurology, 1987The authors describe two cases of familial muscle disease, a mother and her daughter, characterized by centrally placed nuclei and a predominance of hypotrophic type 1 fibers. Clinically the patients exhibited a muscular weakness and atrophy localized mainly distally. Both showed hypertrophy of their calves.
M G, Lovaste, D, Aldovini, G, Ferrari
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[Centronuclear myopathy (author's transl)].
Acta neurologica Belgica, 1978Three cases of centronuclear myopathy are reported in a sibship. The disease starts during the late childhood and has a very slow progressive course. Clinical examination reveals a ptosis of the eyelids, a weakness of the facial muscles, a high-arched palate and a diffuse involvement of the lower extremities. The respiratory muscles are involved in the
J J, Martin +3 more
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Adult- Onset Centronuclear Myopathy.
The Journal of the Association of Physicians of India, 2018Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Three forms of the disease are clinically recognized. The severe neonatal form, the childhood onset form, and an adult-onset form.
Mugundhan, Krishnan +2 more
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[Autosomal dominant centronuclear myopathy].
Revue neurologique, 1993In a family 6 members in 3 generations were affected by centronuclear myopathy (CNM) of autosomal dominant inheritance. The apparent onset was in the early forties and the disease progressed slowly. Limb weakness was predominant. Strabismus was present in 5 cases and calves hypertrophy in 3.
X, Ferrer +6 more
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Infantile centronuclear myopathy
Journal of the Neurological Sciences, 1983G.B. Elder +4 more
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mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression
Cell Metabolism, 2017Joni Nikkanen, Liya Wang, Swagat Pradhan
exaly