Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube‐like structures

Bethlem, J.; Wijngaarden, G.K. van; Meijer, A. E. F. H.; Hülsmann, W.C.

doi:10.1212/wnl.19.7.705

Cited by 69 publications

(23 citation statements)

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“…Type I fiber predominance, one of the main findings in CNM [3][4][5]11,12,15,16 , was seen in all our muscle samples. Four patients disclosed only type I fibers.…”

Section: Fig 3 the Central Nucleus (N) With Multilobulated Aspect Issupporting

confidence: 54%

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Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset

Zanoteli¹,

Oliveira

Kiyomoto³

et al. 1998

Arq. Neuro-Psiquiatr.

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-Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset. We describe herein the muscle biopsy findings of ten patients with the childhood onset form of the disease including three cases with ultrastructural study. The biopsies disclosed increased nuclear centralization that varied from 25 to 90% of the fibers, type 1 predominance, great variability in fiber diameters, involvement in the internal fiber's architecture, and focal areas of myofilament disorganization. The main histopathologic differential diagnoses included type I fiber predominance, congenital fiber type disproportion, and myotonic dystrophy. The histologic abnormalities in centronuclear myopathy may be due to an arrest of maturation on the fetal myotubular stage. The cause of this arrest remains elusive.KEY WORDS: centronuclear myopathy, myotubular myopathy, histochemical, ultrastructure. Miopatia centronuclear: aspectos histopatológicos em dez pacientes com a forma clínica de início na infânciaRESUMO -A miopatia centronuclear (MCN) é uma forma rara de miopatia congênita. De acordo com a época do início dos sinais e sintomas e com o grau de envolvimento muscular são distinguidas três formas clínicas: forma neonatal severa; forma de início na infância; e de início na vida adulta. São apresentados neste estudo os achados histopatológicos de dez pacientes portadores da forma de início na infância da MCN. Os fragmentos musculares foram processados através de colorações de rotina e histoquímica, e em três casos foi realizado estudo ultraestrutural. Dentre os resultados obtidos, destacou-se o aumento da centralização nuclear na fibra muscular, que variou de 25 a 90%. Adicionalmente, foram observadas predominância de fibras do tipo I, variabilidade entre o diâmetro das fibras musculares, alterações da arquitetura interna das fibras musculares e presença de áreas focais de desorganização dos miofilamentos. Devido a estes aspectos, os principais diagnósticos diferenciais considerados foram as miopatias por predominância de fibras e por desproporção de fibras, e a distrofia miotônica. As anormalidades histológicas observadas na MCN podem ser devidas a uma parada no processo maturacional do músculo esquelético na fase miotubular fetal. A causa deste defeito ainda permanece sem explicação completa. PALAVRAS-CHAVE: miopatia centronuclear, miopatia miotubular, histoquímica, ultra-estrutura.Centronuclear myopathy (CNM) is a rare disease, classified in the congenital myopathy group, described in 1966 by Spiro, Shy and Gonatas 31 . It presents with diffuse involvement of skeletal muscles, including those innervated by the cranial nerves, with onset in early childhood and a slowly progressive evolution. The basic histological abnormality is the high percentage of centrally placed nuclei associated, in most cases, with a perinuclear halo without myofibrils and a high oxidative ...

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“…Type I fiber predominance, one of the main findings in CNM [3][4][5]11,12,15,16 , was seen in all our muscle samples. Four patients disclosed only type I fibers.…”

Section: Fig 3 the Central Nucleus (N) With Multilobulated Aspect Issupporting

confidence: 54%

“…Only one patient of our series had a severe increase and in the other patients it was absent or insignificant. Other authors have found an increase in the endomysial, or perifascicular adipose tissue 2,3,4,14,30 . Only an increase in the perifascicular adipose tissue we have found in our patients.…”

Section: Discussion Discussion Discussion Discussion Discussionmentioning

confidence: 90%

Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset

Zanoteli¹,

Oliveira

Kiyomoto³

et al. 1998

Arq. Neuro-Psiquiatr.

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“…Type 1 atrophy in children has been described in several other situations. Many of these reports include central nuclei as a feature of the histological picture [2,13,14,171. These cases have been labeled myotubular or centronuclear myopathy by some authors.…”

Section: Resultsmentioning

confidence: 99%

Congenital fiber type disproportion in identical twins

Curless

Nelson

1977

Annals of Neurology

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Eighteen-month-old identical twins with the muscle histological characteristics of congenital fiber type disproportion are reported. The fiber typing system of pH-dependent adenosine triphosphatase was used to analyze the size and percentage of type 1, 2A, and 2B fibers in muscle tissue obtained by needle biopsy. Both twins had significantly larger type 2 than type 1 fibers, with 2B fibers representing the largest type. One patient also had type 1 predominance at the expense of a reduction in 2B (2B deficiency). The probands as well as other family members had transient delayed motor development, macrocephaly, and normal intelligence. A biopsy obtained from 1 of these family members failed to demonstrate a similar histological abnormality. The disorder is nonprogressive in this family, as evidenced by minimal disability in the older members and gradual improvement in the probands.

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“…5,6,9,11 In this paper, a patient is found to have a neuromuscular disease that differs histopathologically from cases described hitherto.…”

Section: Recentlymentioning

confidence: 84%

Centronuclear Myopathy With Type I Fiber Atrophy and "Myotubes"

Bethlem¹,

Wijngaarden²,

Mumenthaler³

et al. 1970

Archives of Neurology

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Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube‐like structures

Cited by 69 publications

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Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset

Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset

Congenital fiber type disproportion in identical twins

Centronuclear Myopathy With Type I Fiber Atrophy and "Myotubes"

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