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Page 1
Multi-minicore Disease.
Jungbluth H. Jungbluth H. Orphanet J Rare Dis. 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. Orphanet J Rare Dis. 2007. PMID: 17631035 Free PMC article. Review.
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. ...In the majority of patients, weakness is static or only slowly progressive
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and c …
[Congenital myopathies].
Cabello A, Ricoy-Campo JR. Cabello A, et al. Rev Neurol. 2003 Oct 16-31;37(8):779-86. Rev Neurol. 2003. PMID: 14593641 Free article. Review. Spanish.
The protein responsible of the disease as well as the genetic locus involved are still unknown. Central core disease (CCD) is a scarcely progressive disease frequently associated with skeletal malformations. ...Other phenotype with slowly progressiv
The protein responsible of the disease as well as the genetic locus involved are still unknown. Central core disease (CCD) is …
Core myopathies - a short review.
Topaloglu H. Topaloglu H. Acta Myol. 2020 Dec 1;39(4):266-273. doi: 10.36185/2532-1900-029. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458581 Free PMC article. Review.
Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with characteristic, but not always specific, histopathological features, often presenting with stable and/or slowly progressive truncal and proxim
Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with character
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rhabdomyolysis, lethal multiple pterygium syndrome, adult-onset distal myopathy, atypical periodic paralysis with or without myalgia, mild calf-predominant …
As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rhabdomyolysis, lethal m …
Novel TPM3 mutation in a family with cap myopathy and review of the literature.
Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Neuromuscul Disord. 2014. PMID: 24239060 Review.
Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations in ACTA1, TPM2 or TPM3. ...The three patients experienced first symptoms of muscle weakness in childhood and followed a slowly pro
Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mut …
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.
Goebel HH, Halbig LE, Goldfarb L, Schober R, Albani M, Neuen-Jacob E, Voit T. Goebel HH, et al. Neuropediatrics. 2001 Aug;32(4):196-205. doi: 10.1055/s-2001-17374. Neuropediatrics. 2001. PMID: 11571700 Review.
At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. ...Our patient, thus, had a neuromuscular diso …
At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contracture …
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
Dordoni C, Ciaccio C, Venturini M, Calzavara-Pinton P, Ritelli M, Colombi M. Dordoni C, et al. Am J Med Genet A. 2016 Aug;170(8):2031-8. doi: 10.1002/ajmg.a.37728. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27149304 Review.
This evaluation confirms that kyphoscoliosis (either progressive or non-progressive), myopathy, joint hypermobility, and congenital hearing loss (sensorineural, conductive, or mixed) are the typical features of the syndrome. ...
This evaluation confirms that kyphoscoliosis (either progressive or non-progressive), myopathy, joint hypermobility, an …
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T. Yamaguchi T, et al. Am J Med Genet A. 2019 Jun;179(6):948-957. doi: 10.1002/ajmg.a.61142. Epub 2019 Apr 2. Am J Med Genet A. 2019. PMID: 30941898 Review.
The patient was a 12-year-old girl presenting with congenital multiple contractures, progressive severe scoliosis, prenatal-onset growth impairment, motor developmental delay with hypotonia and myopathy-like muscle pathology, mild facial features, and …
The patient was a 12-year-old girl presenting with congenital multiple contractures, progressive severe scoliosis, pren …
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D; Membres du réseau national Syndromes Myasthéniques Congénitaux. Eymard B, et al. Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Rev Neurol (Paris). 2013. PMID: 23452772 Review. French.
CMS diagnosis is late in most cases because of confusion with other entities such as: congenital myopathies, due to the frequent presentation in patients of myopathies such as permanent muscle weakness, atrophy and scoliosis, and the abnormalities of internal struct …
CMS diagnosis is late in most cases because of confusion with other entities such as: congenital myopathies, due to the frequent pres …
[Nemaline myopathy. General review apropos of 3 cases].
Pagès M, Ramos J, Pagès AM, Echenne B. Pagès M, et al. Ann Pathol. 1987;7(3):216-22. Ann Pathol. 1987. PMID: 3325069 Review. French.
The second case was diagnosed at 19 in a boy who suffered from a severe scoliosis without any neurological sign. The third patient was a 31 year-old man who had a progressive muscular weakness of limb girdles. ...Clinical, histopathological and physiopathological of …
The second case was diagnosed at 19 in a boy who suffered from a severe scoliosis without any neurological sign. The third patient wa …