A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores

Lee, Yoke-Sun; Yip, W. C. L.

doi:10.1016/0022-510x(81)90173-8

Cited by 24 publications

(10 citation statements)

References 10 publications

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“…Type I fibers tend to predominate and are often small and preferentially affected, but both type I and type II fibers may be involved. Sporadic occurrence, 6 autosomal dominant 15,25 and recessive 9,12,18 patterns of inheritance, and a variety of associated abnormalities, both clinical 3,7,14,22 and pathological 1,8,9,13,15,17,20,23,24 have been described.…”

Section: Discussionmentioning

confidence: 99%

Multicore myopathy presenting in adulthood with respiratory failure

et al. 1997

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Section: Discussionmentioning

confidence: 99%

Multicore myopathy presenting in adulthood with respiratory failure

et al. 1997

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“…The occurrence of minicores on muscle biopsy in association with features of other congenital myopathies such as central cores, nemaline rods or central nuclei has been well-documented in the pre-molecular era [14,33,67-72] and is currently only partially genetically resolved. Core-like structures, with or without additional nemaline rods, have been reported in association with dominant mutations in the ACTA1 gene [73,74], and there is recent evidence that recessive mutations in the RYR1 gene may give rise to the appearance of centronuclear myopathy with or without additional cores on muscle biopsy [6].…”

Section: Differential Diagnosismentioning

confidence: 99%

Multi-minicore Disease

Jungbluth

2007

Orphanet J Rare Dis

113

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Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is due to recessive mutations in the selenoprotein N (SEPN1) gene, whereas recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD). In the latter forms, there may also be a histopathologic continuum with CCD due to dominant RYR1 mutations, reflecting the common genetic background. Pathogenetic mechanisms of RYR1-related MmD are currently not well understood, but likely to involve altered excitability and/or changes in calcium homeoestasis; calcium-binding motifs within the selenoprotein N protein also suggest a possible role in calcium handling. The diagnosis of MmD is based on the presence of suggestive clinical features and multiple cores on muscle biopsy; muscle MRI may aid genetic testing as patterns of selective muscle involvement are distinct depending on the genetic background. Mutational analysis of the RYR1 or the SEPN1 gene may provide genetic confirmation of the diagnosis. Management is mainly supportive and has to address the risk of marked respiratory impairment in SEPN1-related MmD and the possibility of malignant hyperthermia susceptibility in RYR1-related forms. In the majority of patients, weakness is static or only slowly progressive, with the degree of respiratory impairment being the most important prognostic factor.

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“…These structural abnormalities, however, do not militate against the morphological diagnosis of ccntronuclear myopathy as other struc tural aberrations like concentric laminated and filamentous bodies [Inokuchi ct al., 1975] rods and 'cores' [Pongratz et al, 1975;Engel, 1968], multicores [Lee and Yip. 1981], or minicores [BUI et al, 1979;Sher et al, 1967;Radu ct al.. 1974;Inokuchi cl al., 1975], concentric laminated bodies [Engel, 1968;Inokuchi et al, 1975], or fingerprint inclusions [Jadro-Santel ct al., 1980] have previously been seen in centronuclcar myop athy biopsies.…”

Section: Discussionmentioning

confidence: 99%

Centronuclear Myopathy with Special Consideration of the Adult Form

Goebel¹,

Meinck²,

Reinecke³

et al. 1984

Eur Neurol

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We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with centronuclear myopathy of adulthood whose disorder emphasizes the broad spectrum of this congenital myopathy including clear ocular ptosis in only one and facio-scapulo-peroneal syndrome in another patient. The morphological criteria for classification are central nuclei and the enzyme histochemical findings in muscle biopsies which did not show any significant progression over many years, more severe involvement of distal muscles in 2 patients and conspicuous presence of intrafascicular fat cells. 1 patient had associated minicores in a familial setting. Although electromyographic data comprised a mixed myopathic-neurogenic pattern, the morphological features in muscle biopsies did not further prove a neurogenic origin of our patients’ neuromuscular disorder.

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A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores

Cited by 24 publications

References 10 publications

Multicore myopathy presenting in adulthood with respiratory failure

Multicore myopathy presenting in adulthood with respiratory failure

Multi-minicore Disease

Centronuclear Myopathy with Special Consideration of the Adult Form

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