Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy

Published on Dec 1, 2002in Neuropathology1.758
· DOI :10.1046/J.1440-1789.2002.00461.X
Kiyotaka Suwa7
Estimated H-index: 7
Masashi Mizuguchi22
Estimated H-index: 22
+ 4 AuthorsIkuya Nonaka80
Estimated H-index: 80
A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.
📖 Papers frequently viewed together
4 Citations
1 Citations
3 Authors (韩燕, ..., 丁素菊)
#1Mark A. Corbett (Children's Medical Research Institute)H-Index: 33
#2Stephen Robinson (Children's Medical Research Institute)H-Index: 7
Last. Edna C. Hardeman (Children's Medical Research Institute)H-Index: 51
view all 10 authors...
Nemaline myopathy is a hereditary disease of skeletal muscle defined by a distinct pathology of electron-dense accumulations within the sarcomeric units called rods, muscle weakness and, in most cases, a slow oxidative (type 1) fiber predominance. We generated a transgenic mouse model to study this disorder by expressing an autosomal dominant mutant of α-tropomyosin slow previously identified in a human cohort. Rods were found in all muscles, but to varying extents which did not correlate with t...
80 CitationsSource
#1Kristen J. Nowak (Murdoch University)H-Index: 30
#2Duangrurdee Wattanasirichaigoon (Harvard University)H-Index: 17
Last. Nigel G. Laing (UWA: University of Western Australia)H-Index: 76
view all 25 authors...
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
335 CitationsSource
#1Katarina Pelin (UH: University of Helsinki)H-Index: 34
#2Pirta Hilpelä (UH: University of Helsinki)H-Index: 2
view all 20 authors...
The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the α-tropomyosin gene TPM3. The typical form of nemaline myopathy is inherited as an autosomal recessive trait, the locus of which we previously assigned to chrom...
276 CitationsSource
#1Yukino Itakura (Saitama Medical University)H-Index: 5
#2Yunosuke Ogawa (Saitama Medical University)H-Index: 10
Last. Ikuya NonakaH-Index: 80
view all 4 authors...
A Japanese boy had marked generalized hypotonia and weakness and progressive respiratory failure since birth. Left biceps brachii muscle biopsy at 47 days of age showed marked variation in muscle fiber size, and nemaline and/or cytoplasmic bodies in approximately 10% of the muscle fibers. To our knowledge, the presence of nemaline and cytoplasmic bodies in the same muscle has not been previously reported. The severity of his respiratory failure and muscle weakness were thought to be related to m...
5 CitationsSource
#1Nigel G. Laing (UWA: University of Western Australia)H-Index: 76
#2Steve D. WiltonH-Index: 49
Last. Eric Haan (Boston Children's Hospital)H-Index: 77
view all 10 authors...
Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of alpha−actinin and actin. We have identified a missense mutation in the alpha−tropomyosin gene, TPM3, which segregates completely with the disease in a family whose autosomal dominant nemaline myopathy we had previously localized to chromosome 1p13−q25. The mutation substitutes an arginine residue for a highly conserved methionine in a putative actin−binding s...
317 CitationsSource
#1Anne CaronH-Index: 10
#2Fausto ViaderH-Index: 55
Last. Françoise ChaponH-Index: 22
view all 4 authors...
Muscle biopsy samples from five patients with cytoplasmic body myopathy (CBM) were investigated by immunohistochemical (antibodies to desmin, actin, dystrophin, spectrin, α actinin and utrophin), immunoelectron microscopic (antibodies to desmin, actin and dystrophin) and biochemical (desmin, dystrophin, actin and utrophin western blots) methods. Using immunofluorescence it was shown that the centers of cytoplasmic bodies (CB) were stained by anti-actin, anti-utrophin and three different anti-dys...
20 CitationsSource
#1Shiro Matsubara (Kanazawa University)H-Index: 14
#2T. OkadaH-Index: 1
Last. M. Yoshida (Kanazawa University)H-Index: 1
view all 3 authors...
A case of acute myopathy was observed in the course of treatment of respiratory failure with mechanical ventilation combined with prolonged neuromuscular blockade and administration of corticosteroids. A muscle biopsy revealed degeneration of muscle fibres. Electron microscopy showed loss of thick filaments as well as nemaline rods, vacuoles and cytoplasmic bodies. The mitochondria were increased in number, many harbouring paracrystalline inclusions, which were hitherto unknown in this condition...
12 CitationsSource
#1Nikolai J. Hopf (University of Mainz)H-Index: 19
#2Hans H. Goebel (University of Mainz)H-Index: 53
Ipecac, containing emetine hydrochloride, is used by patients with anorexia nervosa to induce vomiting. Its chronic usage may result in a myopathy and a cardiomyopathy, the former marked by cytoplasmic bodies. We studied myopathological changes after daily injections of female Wistar rats with emetine hydrochloride intraperitoneally for periods of 4, 5, 9, and 10 weeks. the extensor digitorum longus muscle and the soleus muscle showed core-like lesions, streaming of the z-discs, nemaline bodies,...
20 CitationsSource
#1G. Pezeshkpour (AFIP: Armed Forces Institute of Pathology)H-Index: 1
#2Isabel Illa (AFIP: Armed Forces Institute of Pathology)H-Index: 10
Last. Marinos C. Dalakas (AFIP: Armed Forces Institute of Pathology)H-Index: 122
view all 3 authors...
Abstract Electron microscopic features of muscle biopsies from 13 human immunodeficiency (HIV)-positive patients who had myopathy while receiving zidovudine (AZT) were compared with biopsies from five patients with HIV-induced myopathy who were not treated with AZT. All specimens showed disorganization of the myofibrillar structures, along with a varying degree of nemaline (rod) bodies, vacuolization, inflammation, and endothelial tubuloreticular profiles. One untreated and all AZT-treated patie...
67 CitationsSource
#1Yoshihiko MizunoH-Index: 9
#2Yasuhide Nakamura (Tokyo Metropolitan Government)H-Index: 2
Last. Kazuhiko KomiyaH-Index: 3
view all 3 authors...
A 6-year-old girl presented with a myopathy — she was floppy since birth and developed progressive respiratory failure for which she required mechanical ventilation at age 6 months. Biopsy showed cytoplasmic bodies in about 15% of both type 1 and 2 muscle fibers. Of the 18 cases of cytoplasmic body myopathy (CBM) reported in the literature, 3 had symptoms at birth and in all of them the course was benign. Four clinical patterns emerged; a) congenital severe, b) congenital benign, c) juvenile sev...
12 CitationsSource
Cited By4
#1Sandra Donkervoort (NIH: National Institutes of Health)H-Index: 25
#2Sophelia H.S. Chan (HKU: University of Hong Kong)H-Index: 12
Last. Carsten G. Bönnemann (NIH: National Institutes of Health)H-Index: 68
view all 17 authors...
Abstract Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation. Whole exome sequencing identified a heterozygous c.282C>A (p.Asn94Lys) ACTA1 mutation. Patients 2 and 3 were twin ...
5 CitationsSource
The congenital (structural) myopathies are a group of disorders characterized by muscle weakness with mostly congenital onset. The non-dystrophic muscle biopsy shows the presence in the muscle fibers of structural abnormalities, on which the names of the disorders are based. There is much clinical and genetic overlap, with various histological findings and modes of inheritance associated with mutations in the same genes. Molecular diagnosis is therefore warranted, where possible.
3 CitationsSource
#1Shafeeq LadhaH-Index: 13
#2Stephen W. Coons (Barrow Neurological Institute)H-Index: 51
Last. Kumaraswamy SivakumarH-Index: 25
view all 6 authors...
Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis. However, little is known regarding the development and progression of muscle histopathologic changes in nemaline myopathy. Results of muscle biopsies at 7 weeks of age and at 15 months of age from a child with nemaline myopathy due to a novel mutat...
4 CitationsSource
#1Rosana Herminia Scola (UFPR: Federal University of Paraná)H-Index: 22
#2Alcides Júnior Trentin (UFPR: Federal University of Paraná)H-Index: 1
Last. Lineu Cesar Werneck (UFPR: Federal University of Paraná)H-Index: 30
view all 6 authors...
A miopatia por corpos esferoides e doenca rara, classificada no grupo das miopatias congenitas relacionadas aos disturbios da desmina; apresenta, em geral, origem autossomica dominante e com inicio dos sintomas na fase adulta. Relatamos o caso de menina de sete anos, com diparesia facial, hipotrofia e hipotonia muscular generalizadas, arreflexia profunda generalizada, forca muscular proximal nos membros superiores e inferiores e distal dos membros superiores grau 3 e distal nos membros inferiore...