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Results 1 - 10 of 19 for Congenital muscular dystrophy
  1. COL6A1 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2): ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
  2. COL6A3 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2): ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
  3. COL6A2 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2): ...
    https://medlineplus.gov/genetics/gene/col6a2 - Genetics
  4. FKTN gene 
    ... FKTN gene have been found to cause Fukuyama congenital muscular dystrophy, a condition that affects the development of the eyes, brain, and skeletal muscles. This form of congenital muscular dystrophy occurs primarily in people of Japanese ancestry. Most ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  5. FKRP gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and ... found in a small number of people with congenital muscular dystrophy type 1C (MDC1C), which causes muscle weakness, brain ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  6. LARGE1 gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and ... also involved in a less severe form of congenital muscular dystrophy known as congenital muscular dystrophy type 1D (MDC1D). ...
    https://medlineplus.gov/genetics/gene/large1 - Genetics
  7. POMT2 gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes muscle weakness and abnormalities ... including muscle-eye-brain disease and POMT2-related congenital muscular dystrophy (also known as MDDGB2). Muscle-eye-brain disease ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  8. POMT1 gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Individuals with Walker-Warburg syndrome have skeletal muscle ... including muscle-eye-brain disease and POMT1-related congenital muscular dystrophy (also known as MDDGB1). Muscle-eye-brain disease ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  9. LMNA gene 
    ... gene have been reported to cause LMNA-related congenital muscular dystrophy (L-CMD), a rare condition characterized by skeletal ... novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
  10. LAMA2 gene 
    ... Gene ClinVar Allamand V, Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding ... Suzuki Y, Nakagawa M, Takeda S. Merosin and congenital muscular dystrophy. Microsc Res Tech. 2000 Feb 1-15;48( ...
    https://medlineplus.gov/genetics/gene/lama2 - Genetics
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