Nemaline Myopathy

Gm, Shy; Wk, Engel; Je, Somers; Wanko, Theodor

doi:10.1093/brain/86.4.793

Cited by 412 publications

(31 citation statements)

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“…Though con¬ taining the usual primary and secondary synaptic clefts, there were several areas of irregular dilatation of the latter. (2) A finding which to our knowledge has not been reported previously in association with this condition was Ringbinden (Fig 2, 5 …”

mentioning

confidence: 57%

The Spectrum of Rod Myopathies

Heffernan¹,

Rewcastle²,

Humphrey³

1968

Archives of Neurology

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mentioning

confidence: 57%

The Spectrum of Rod Myopathies

Heffernan¹,

Rewcastle²,

Humphrey³

1968

Archives of Neurology

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“…NM was described by two separate groups in 1963 as a novel disease entity [Conen et al, 1963; Shy et al, 1963]. The most common clinical presentation is early-onset muscle weakness predominantly affecting proximal limb muscles.…”

Section: The Spectrum Of Myopathies Caused By Variants In Nebmentioning

confidence: 99%

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

et al. 2014

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A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in NEB are the major cause of nemaline myopathy (NM), one of the most common congenital myopathies. Moreover, pathogenic NEB variants have been identified in core-rod myopathy and in distal myopathies. In this update, we present the disease-causing variants in NEB in 159 families, 143 families with NM, and 16 families with NM-related myopathies. Eighty-eight families are presented here for the first time. We summarize 86 previously published and 126 unpublished variants identified in NEB. Furthermore, we have analyzed the NEB variants deposited in the Exome Variant Server (http://evs.gs.washington.edu/EVS/), identifying that pathogenic variants are a minor fraction of all coding variants (~7%). This indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders. Lastly, we discuss the difficulties of drawing reliable genotype–phenotype correlations in NEB-associated disease.

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“…Since the mitochondria play a role in determining the internal distri bution of ions, it is conceivable that mitochondrial aberrations might give rise to a syndrome when sodium chloride in the diet is restricted or potassium administered. This disease manifests itself as early as the first year of life by weakness and proximal hypotony, which remains during the growth of the child [120,124,125,130].…”

Section: Diseases Of Muscle Organellesmentioning

confidence: 99%

“…The presence of the normal amount of glycogen in the syndrome also distinguishes it from that of Mac Ardle. [120,122,125,130,133] This is another hereditary disease affecting the fibrillar protein of muscle. It manifests itself in a symmetrical stationary, proximal muscle weakness.…”

Section: Diseases Of Muscle Organellesmentioning

confidence: 99%