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Results 1 - 10 of 10 for Congenital myopathy 20
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Rigid spine muscular dystrophy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CONGENITAL MYOPATHY 3 WITH RIGID SPINE; CMYO3 PubMed Ardissone A, ... Abbs S, Mercuri E, Muntoni F. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. ... Citation on PubMed
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  8. Intestinal pseudo-obstruction 
    ... condition. Chronic idiopathic intestinal pseudo-obstruction CIIP CIPO Congenital short bowel syndrome Enteric neuropathy Familial visceral myopathy Familial visceral neuropathy IPO Paralytic ileus Pseudo-obstruction ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  9. Myotonic dystrophy 
    ... mediated muscle disease. Curr Opin Neurol. 2007 Oct;20(5):572-6. doi: 10.1097/WCO.0b013e3282ef6064. ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  10. Glycogen storage disease type IV 
    ... with the childhood neuromuscular type may have around 20 percent of enzyme function. The other types of ... IV are usually associated with between 5 and 20 percent of working enzyme. These estimates, however, vary ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics