Centronuclear ("Myotubular") Myopathy

Munsat, Theodore L.; Thompson, Lawrence R.; Coleman, Ralph F.

doi:10.1001/archneur.1969.00480080020002

Cited by 64 publications

(19 citation statements)

References 32 publications

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“…In this form of myopathy, most of the myofibers contain central nuclei, which give them an appearance resembling embryonal myotubules (Munsat et al 1969). Whereas the immunohistochemical expression of cyclin T2a is very high in normal skeletal muscle cells, its expression is undetectable in the tissue from two patients with centronuclear myopathy.…”

Section: Discussionmentioning

confidence: 99%

“…Drawing on this background, we investigated cyclin T2a immunohistochemical expression in two cases of centronuclear myopathy (Munsat et al 1969), comparing the results with the expression pattern of cyclin T2a in normal human adult skeletal muscle cells. In the cases of centronuclear myopathy ( Figure 3C), expression of the protein was undetectable ( Figure 3D), whereas in normal skeletal muscle cells cyclin T2a was expressed at high levels in the nuclei ( Figure 3A).…”

Section: Immunohistochemical Expression Of Cyclin T2a In Two Cases Ofmentioning

confidence: 99%

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Cyclin T2A Gene Maps on Human Chromosome 2q21

Luca

Tosolini

Russo³

et al. 2001

J Histochem Cytochem.

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Cyclin T2a was recently identified as one of the regulatory subunits of the cdk–cyclin complex P-TEFb, the most studied positive factor in the regulation of transcription elongation. By fluorescent in situ hybridization (FISH), the gene codifying for cyclin T2a has been mapped on human chromosome 2q21. This locus also has been linked to different forms of myopathy. By use of a new specific antiserum raised against cyclin T2a, the immunohistochemical pattern of expression of cyclin T2a in human tissues has been examined and compared to that of cyclin T1, described in the previous report. The observation that immunohistochemical expression of cyclin T2a was high in skeletal muscle cells, whereas it was undetectable in two cases of centronuclear myopathy, together with its chromosomal location, suggests an involvement of the cdk9–cyclin T2a complex in this disease.

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Section: Discussionmentioning

confidence: 99%

Section: Immunohistochemical Expression Of Cyclin T2a In Two Cases Ofmentioning

confidence: 99%

Cyclin T2A Gene Maps on Human Chromosome 2q21

Luca

Tosolini

Russo³

et al. 2001

J Histochem Cytochem.

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“…fibers may show absence of activity in the center of the fiber surrounded by a halo with higher activity, more probably corresponding to a level of section on the centralized nucleus 2,14,21 . Also, a radiated aspect of the myofibrils, of spoke-like appearance, may be observed surrounding the nucleus 14,34 , and in some cases there are intense alterations in the internal architecture where areas with absence of oxidative activity can be observed throughout the whole muscle fiber 4,20 .…”

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

confidence: 99%

“…Autopsy studies revealed that skeletal muscle involvement is diffuse including the extrinsic eye musculature, diaphragm and intercostal muscles 10,21,27,29 . Smooth and cardiac muscles are spared 5,21 .…”

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

confidence: 99%

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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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