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Internally nucleated skeletal muscle fibers

MedGen UID:
1623054
Concept ID:
C4531255
Anatomical Abnormality
Synonym: Internally nucleated skeletal muscle fibres
 
HPO: HP:0031237

Definition

An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInternally nucleated skeletal muscle fibers

Conditions with this feature

Muscular dystrophy, limb-girdle, autosomal recessive 23
MedGen UID:
1648462
Concept ID:
C4748327
Disease or Syndrome
The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2-MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. Failure to thrive, gastroesophageal reflux, aspiration, and recurrent chest infections necessitating frequent hospitalizations are common. As disease progresses, facial muscle weakness, temporomandibular joint contractures, and macroglossia may further impair feeding and can affect speech. In late-onset LAMA2-MD onset of manifestations range from early childhood to adulthood. Affected individuals may show muscle hypertrophy and develop a rigid spine syndrome with joint contractures, usually most prominent in the elbows. Progressive respiratory insufficiency, scoliosis, and cardiomyopathy can occur.
Myopathy, distal, 6, adult-onset, autosomal dominant
MedGen UID:
1684760
Concept ID:
C5203349
Disease or Syndrome
Autosomal dominant adult-onset distal myopathy-6 (MPD6) is a muscle disorder characterized by slowly progressive distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles (summary by Savarese et al., 2019)
Myopathy, congenital, with structured cores and z-line abnormalities
MedGen UID:
1684705
Concept ID:
C5231445
Disease or Syndrome
Congenital myopathy-8 (CMYO8) is an autosomal dominant disorder of the skeletal muscle characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades. Affected individuals show respiratory insufficiency, high-arched palate, and scoliosis; external ophthalmoplegia may also be present. Skeletal muscle biopsy shows cores and myofibrillar disorganization (Lornage et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).
Myopathy, distal, with rimmed vacuoles
MedGen UID:
1728314
Concept ID:
C5399975
Disease or Syndrome
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by Bucelli et al., 2015).
Oculopharyngodistal myopathy 3
MedGen UID:
1794166
Concept ID:
C5561956
Disease or Syndrome
Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by Ogasawara et al., 2020 and Yu et al., 2021). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).

Recent clinical studies

Etiology

Long DE, Mantuano AJ, Confides AL, Miller BF, Kern PA, Butterfield TA, Dupont-Versteegden EE
J Appl Physiol (1985) 2023 Dec 1;135(6):1403-1414. Epub 2023 Sep 14 doi: 10.1152/japplphysiol.00441.2023. PMID: 37705447Free PMC Article
Nadaj-Pakleza A, Lusakowska A, Sułek-Piątkowska A, Krysa W, Rajkiewicz M, Kwieciński H, Kamińska A
Folia Morphol (Warsz) 2011 May;70(2):121-9. PMID: 21630234

Diagnosis

Nadaj-Pakleza A, Lusakowska A, Sułek-Piątkowska A, Krysa W, Rajkiewicz M, Kwieciński H, Kamińska A
Folia Morphol (Warsz) 2011 May;70(2):121-9. PMID: 21630234

Clinical prediction guides

Hauerslev S, Sveen ML, Vissing J, Krag TO
PLoS One 2013;8(6):e66929. Epub 2013 Jun 28 doi: 10.1371/journal.pone.0066929. PMID: 23840556Free PMC Article
Nadaj-Pakleza A, Lusakowska A, Sułek-Piątkowska A, Krysa W, Rajkiewicz M, Kwieciński H, Kamińska A
Folia Morphol (Warsz) 2011 May;70(2):121-9. PMID: 21630234

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