Limb girdle muscular dystrophy type 2S (LGMD 2S)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Limb girdle muscular dystrophy type 2S (LGMD 2S). This is caused by mutations in the TRAPPC11 gene on chromosome 4q35. The onset is in childhood.

Genetics

  • This is caused by mutations in the TRAPPC11 gene on chromosome 4q35
  • The onset is in childhood

Neurological features

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Other features

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Muscle biopsy: features

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Other investigations

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Synonym

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Acronym

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References

  1. Koehler K, Milev MP, Prematilake K, et al. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. J Med Genet 2017; 54:176-185.
  2. Bögershausen N, Shahrzad N, Chong JX, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet 2013; 93:181-190. 
  3. Liang WC, Zhu W, Mitsuhashi S, et al. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skelet Muscle 2015; 5:29. 
  4. Justel M, Jou C, Sariego-Jamardo A, et al. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant. J Med Genet 2023: jmg-2022-109132.

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