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Results 1 - 10 of 20 for Congenital myopathy 20
  1. ... Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 ... Citation on PubMed
  2. ... Genotype-phenotype correlations in ACTA1 mutations that cause congenital ... gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd. ...
  3. ... patients with LAMA2 mutations. Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6. Citation on PubMed Lokken N, Born AP, Duno M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve. 2015 ...
  4. ... of the disorder in their family. Cap disease Congenital myopathy with caps Cap myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYP4B CONGENITAL MYOPATHY 23; CMYP23 ...
  5. ... Native American myopathy Genetic Testing Registry: Bailey-Bloch congenital myopathy Native American myopathy National Organization for Rare Disorders ( ...
  6. ... This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition Mutations in the SELENON gene are involved in another rare muscle disorder called desmin-related myopathy with Mallory body-like ...
  7. ... Testing Registry: Actin accumulation myopathy Genetic Testing Registry: Congenital myopathy 23 Genetic Testing Registry: Congenital myopathy 4B, autosomal ...
  8. ... condition. Minicore disease Minicore myopathy MmD Multi-core congenital myopathy Multi-core disease Multi-minicore disease Multicore disease ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; CMYP1B CONGENITAL MYOPATHY 3 WITH ...
  9. ... Genetic Testing Registry: Centronuclear myopathy Genetic Testing Registry: Congenital myopathy with internal nuclei and atypical cores Genetic Testing ...
  10. ... previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul;35(7):779-90. ... for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd. ...
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