Nemaline Myopathy: A Histopathologic and Histoohemical Study

Nienhuis, Arthur W.; Coleman, Ralph F.; Brown, W. Jann; Munsat, Theodore L.; Pearson, Carl M.

doi:10.1093/ajcp/48.1.1

Cited by 55 publications

(16 citation statements)

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“…Experimental studies-neonatal neurectomy (Karpati and Engel, 1967a), crossinnervation (Karpati and Engel, 1967b), and aneural culture of muscle (Askansas et al, 1972) -all indicate the importance of neural factors in the development and maintenance of the fibre populations defined by the ATPase reaction, as does type-grouping in human disease (Brooke and Engel, 1966). In contrast, histochemical uniformity is encountered clinically in disorders ofunknown aetiology which are at present classed as myopathic (Gonatas et al, 1965;Nienhuis et al, 1967;Lambert, 1974).…”

Section: Discussionmentioning

confidence: 99%

Hypertrophy of the branchial muscles. A case with unusual features.

Lambert¹,

Young²

1976

Journal of Neurology, Neurosurgery & Psychiatry

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Section: Discussionmentioning

confidence: 99%

Hypertrophy of the branchial muscles. A case with unusual features.

Lambert¹,

Young²

1976

Journal of Neurology, Neurosurgery & Psychiatry

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“…Nemaline myopathy (NEM) is a congenital myopathy that is characterized clinically by proximal muscle weakness and hypotonia and defined morphologically by eosinophilic rod‐shaped inclusions or nemaline bodies in muscle fibers 1–4. Several clinical types of NEM are recognized based on the age of disease onset and severity of muscle weakness, ranging from a severe, neonatal, often lethal subtype to milder, non‐progressive, or slowly progressive forms that present in infancy, childhood, or adulthood 5–7.…”

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confidence: 99%

Nemaline myopathy type 6: Clinical and myopathological features

et al. 2010

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Introduction Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. Methods We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene screening were accomplished by searching known and 18 new candidate genes. Results The disease started in childhood by affecting proximal and distal muscles and causing slowness of movements. Muscle biopsies show numerous nemaline rods and core-like formations. Suggestive linkage to chromosome 15q22-q23 was established. Genes known to be mutated in NEM or core-rod myopathy were screened and excluded. No pathogenic mutations were identified in other candidate genes. Discussion The disease in this Spanish family is classified as NEM6. It is phenotypically similar and probably allelic to the two previously reported NEM6 pedigrees. Further studies of these families will lead to the identification of the NEM6 gene.

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“…M a r t i n and Reniers (1968) proposed a hypothesis that "type II fibres were more sensitive to nemaline involvement, leading to an early conversion of involved type II fibres to type I fibres, p r o b a b l y at foetal age, and to the survival of rare isolated hypertrophic less involved type II fibres." However, rod a c c u m u l a t i o n is generally accePted to be not a cause of muscle involvement but a result of it, as there was no correlation between the severity of weakness a n d the degree of rod a c c u m u l a t i o n (Nienhuis et al, 1967). According to D u b o w i t z (1965) type I fibres were larger and compromised rather a small prop o r t i o n of the total in the early stage of differentiation of muscle fibres a n d t r a n s f o r m a t i o n from type II to type I was seen during growth (Kugelberg, 1976).…”

Section: Discussionmentioning

confidence: 98%

“…In nemaline myopathy, type I fibre atrophy and type II fibre paucity (Engel et al, 1964;Nienhuis et al, 1967;Karpati et al, 1971;Dahl and Klutzow, 1974;Yuasa et al, 1977), or small angulated fibres suggesting denervation were reported in muscle biopsies. Neurogenic changes such as fibrillation potentials or high amplitude N M U were also reported in the electromyogram (Fluthorpe et al, 1969;Radu and Ionescu, 1972;Neustein, 1973;Yuasa et al, 1977).…”

Section: Discussionmentioning

confidence: 99%

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Nemaline myopathy: Histological, histochemical and ultrastructural studies

et al. 1978

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Histological, histochemical and ultrastructural studies were performed on muscle biopsies from three siblings with congenital nemaline myopathy. Histological studies revealed type I fibre atrophy and type II fibre paucity. Ultrastructural studies of intramuscular nerves showed that the axonal diameters were very narrow compared with the width of myelin lamellae. Granular or membranous osmiophilic material occurred in the adaxonal Schwann cell cytoplasm and had a periodicity of 33--38 A. The neuromuscular junctions showed degenerative features such as glycogen granules or myelin figures in 27.1% of total terminal axons. The secondary synaptic clefts were markedly decreased in number and short in length. Myotendinous junction-like structures were found in 5.5% of the muscle fibres near the neuromuscular junctions, and often near sites of fibre-splitting. Rods in nemaline myopathy might be caused as a result of longitudinal splitting and disruption of fibres due to deficient regeneration of the muscle fibres associated with neurotrophic abnormalities.

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Nemaline Myopathy: A Histopathologic and Histoohemical Study

Cited by 55 publications

References 0 publications

Hypertrophy of the branchial muscles. A case with unusual features.

Hypertrophy of the branchial muscles. A case with unusual features.

Nemaline myopathy type 6: Clinical and myopathological features

Nemaline myopathy: Histological, histochemical and ultrastructural studies

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