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Results 1 - 10 of 15 for Congenital myopathy 20
  1. RYR1 gene 
    ... Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  2. ACTA1 gene 
    ... Genotype-phenotype correlations in ACTA1 mutations that cause congenital ... gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  3. LAMA2-related muscular dystrophy 
    ... 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 ...
    https://medlineplus.gov/.../lama2-related-muscular-dystrophy - Genetics
  4. Cap myopathy 
    ... 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; CMYO4B CONGENITAL MYOPATHY 23; CMYO23 ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  5. STAC3 disorder 
    ... Native American myopathy Genetic Testing Registry: Bailey-Bloch congenital myopathy Native American myopathy National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  6. SELENON gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  7. Nemaline myopathy 
    ... Testing Registry: Actin accumulation myopathy Genetic Testing Registry: Congenital myopathy 23 Genetic Testing Registry: Congenital myopathy 4B, autosomal ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  8. Multiminicore disease 
    ... 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; CMYO1B CONGENITAL MYOPATHY 3 WITH ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  9. Centronuclear myopathy 
    ... Genetic Testing Registry: Centronuclear myopathy Genetic Testing Registry: Congenital myopathy with internal nuclei and atypical cores Genetic Testing ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  10. TPM3 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
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