Myotubular myopathy

Badurska, B; Fidziańska, Anna; Kamieniecka, Z; Prot, J; Strugalska, H

doi:10.1016/0022-510x(69)90014-8

Cited by 35 publications

(9 citation statements)

References 11 publications

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“…The type I fibers of the present case and from his brother (Engel et al 1968) each constituted a greater percentage of the involved, small fibers. Other investigators have reported a predominance of type I involvement (van , Badurska et al 1969, Karpati et al 1970, Bethlem et al 1970, Brooke & Williamson 1969. The exact significance of this observation remains unclear.…”

Section: Discussionmentioning

confidence: 91%

“…Several different names, from apparently similar cases, have been used to label this disorder; myotubular myopathy (van , Badurska et al 1969, centronuclear myopathy (Sher et al 1967, Bethlem et al 1968, Munsat et al 1969, type I fiber hypotrophy (Engel et al 1968) or atrophy , Karpati et al 1970) and central nuclei, and other descriptive combinations (Campbell et al 1969). Bethlem et al (1970) reported a 38 year old woman with all the histopathologic features of this muscle dis-order described separately by earlier investigators, and championed the idea that "centronuclear myopathy, myotubular myopathy, and type I fiber atrophy with central nuclei all belong to one group of neuromuscular disease".…”

Section: Discussionmentioning

confidence: 99%

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Familial neuromuscular disease with “myotubes“

et al. 1974

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Van Wijngaarden et al. (1969) described a “myotubular myopathy” in a Dutch family, of which six male members were affected, indicating a recessive X‐linked mode of transmission. They also thought that the morphology of a case reported by Engel et al. (1968) resembled that seen in their family. The present case is a male sib of the patient reported by Engel and colleagues, who has similar clinical and morphologic features to his brother, and who died at 7 months of age. Muscle enzyme histochemistry of a quadriceps biopsy revealed that most type I fibers were small and had central pale areas or plump nuclei. A smaller percentage of type II fibers also showed the same features. Biopsies of muscle from the mother and father were histologically normal including fiber type composition. Karyotypic analyses, not reported in earlier cases, were performed on the family and showed no abnormalities in modal number or of individual chromosome structure. Pedigree analysis suggests an X‐linked recessive inheritance pattern in this family.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Familial neuromuscular disease with “myotubes“

et al. 1974

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“…In areas of disorganised myofibrils, Z band abnormalities such as streaming may be seen. Headington et al (1975) noted a decreased diameter of axial compared to subsarcolemmal myofibrils, while Bethlem et al (1968), andBadurska et al (1969) found no degenerative changes.…”

Section: Clinical Featuresmentioning

confidence: 99%

Centronuclear myopathy.

Bill¹,

Cole²,

Proctor³

1979

Journal of Neurology, Neurosurgery & Psychiatry

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The patient (CM), a black girl aged 7 years, is the only child of a non-consanguineous marriage. Pregnancy and delivery were normal. In the early neonatal period, transient jaundice was present. A generalised floppiness was noted soon after birth with reportedly normal limb movements. There were no feeding difficulties and bulbar function appeared to be good. Considerable difficulty in lifting the head, especially when in the prone position, was noted after a few months. She was able to sit unaided at the age of 4 months, but was never able to crawl. She walked at the age of 4 years. The patient was first seen at the age of 4 years 9 months because of increasing difficulty with walking. Increasing difficulty had also been experienced in changing from a lying to a sitting position. Her (Fig. 1). Amarkedgeneralised hypotonia was present. The strength was markedly reduced in the limbs, the upper limbs being slightly weaker than the lower limbs with the proximal muscles being most involved. The neck musculature was diffusely weakened. She was unable to stand from a lying position, could not climb stairs, and walked with a slow waddling gait. Prominent facial weakness resulted in an expressionless appearance. A mild ptosis and proptosis were present. She was unable to raise the eyes, and horizontal upward and downward eye movements were limited to a few degrees. Pupillary reflexes were normal. The masticatory muscles were weakened, and at rest the patient presented an open-mouthed appearance (Fig. 2). The tongue and pharyngeal muscles were normal. The trunk musculature was similarly involved, resulting in an exaggerated lumbar lordosis with protuberant abdomen. Respiration was mainly abdominal. The tendon reflexes were absent and plantar responses flexor. Sensation was normal. Over the vertex of the head there was a patch of white hair.

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“…1967;Sher et al, 1967; Campbell, Rebeiz. and Walton, om, 1968;, though not in others(Bethlem et al, 1968; *6 of Wijn-Badurska et al, 1969). The three-fold fall in the number of central nuclei in the left gastrocnemius e has been muscle of case 1 of this report during the 17 years ibres being between biopsy and death, might suggest nuclear ize or even degeneration and loss since approximately the same sually been proportion of fibres had central loss of myofibrils…”

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confidence: 57%

“…Engel, Gold, and Karpati (1968) showed with both 'normal' and EDTAo right reversed myosin ATPase as well as with stains for 9-.left oxidative enzymes that the peripheral myofibrilcontaining areas of all these fibres in their case were type I in nature. The cases of Bethlem et al (1969) and Badurska, Fidzianska, Kamieniecka, Prot, and Strugalska (1969) were somewhat similar. However five of the six cases of Wijngaarden et al (1969), and the case of Bethlem et al (1970) had atrophic fibres with the peripheral myofibril-containing areas staining lightly both for myosin ATPase, and oxidative enzymes, that is, they were of neither fibre type.…”

Section: Skeletal Muscle Pathologymentioning

confidence: 73%

Familial centronuclear myopathy

Bradley

Price

Watanabe

1970

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY The clinical and histological features of two Negro brothers with a centronuclear myopathy are described. They bring to 19 the number of cases now reported with this constellation of physical signs and pathological changes in the muscles. A review of these patients suggests the existence of several different diseases causing this picture, though presumably the underlying biochemical defects are closely related. It is concluded that these myopathies are degenerative rather than due to arrest of foetal muscle maturation. Spiro, Shy, and Gonatas (1966) described a boy with a congenital myopathy affecting all skeletal muscles, and especially causing external ophthalmoplegia, ptosis, and facial weakness. Up to 85% of the skeletal muscle fibres had central nuclei. The authors suggested that these fibres represented foetal myotubes persisting into adolescence, and named the condition 'myotubular myopathy'. Since then, 16 further cases believed to be suffering from the same condition have been reported (see Table 1). The theory of the persistence of myotubes has not won universal acceptance, and the term 'centronuclear myopathy' is to be preferred.We have studied a further pair of brothers with this condition, and record our findings in this report. A review of the 19 total cases shows a lack of uniformity in the age of onset, clinical features, and histochemical characteristics. The question of whether more than one disease entity is included will be discussed. facial, palatal, and lingual movements. The temporalis muscles were atrophic, but the masseter, stemomastoid, and upper trapezius muscles were of normal bulk. Movements of the extremities were extremely weak, especially proximally, and the limb girdle muscles particularly atrophic. The respiratory muscles were weak, with a thoracic kyphoscoliosis. A cardiac ejection systolic murmur was heard. The ECG showed right ventricular hypertrophy.The muscle weakness worsened, and at 34 years of age he was readmitted to the hospital because of dyspnoea. He was still able to feed himself and roll over in bed, but could do little else. A few days after admission he died of aspiration.Post-mortem examination disclosed bronchopneumonia, focal fibrosis of the myocardium, and a small colloid goitre. The skeletal muscles were pale and atrophic; the histological findings are described below. Numerous levels of the spinal cord showed no abnormality; the complement of motor neurones was normal. The smooth muscle of the gut, bladder, and blood vessels was normal. At necropsy the skeletal muscles were pale and atrophic. Sections from two (unstated) muscles showed changes similar to those in his brother's muscles (see below). The complement of motor neurones in the spinal cord was normal. The brain showed only anoxic changes. The smooth muscle of gut, bladder, and blood vessels, and the myocardium were normal. FAMILY HISTORYThe parents of the two brothers (cases 1 and 2) were not known to have primary muscular disease, and there was no consanguinity in the family. The father, a...

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Myotubular myopathy

Cited by 35 publications

References 11 publications

Familial neuromuscular disease with “myotubes“

Familial neuromuscular disease with “myotubes“

Centronuclear myopathy.

Familial centronuclear myopathy

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