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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2n (lgmd 2n): Genetics This is a dystroglycanopathy It is caused by mutations in the POMT2 gene Clinical features Magnetic resonance imaging (MRI) muscle: affected sites Magnetic resonance imaging (MRI) brain: features Other…

Genetics

  • This is a dystroglycanopathy
  • It is caused by mutations in the POMT2 gene

Clinical features

Magnetic resonance imaging (MRI) muscle: affected sites

Magnetic resonance imaging (MRI) brain: features

Other investigations

Synonym

Acronym

References

  1. Østergaard ST, Johnson K, Stojkovic T, et al. Limb girdle muscular dystrophy due to mutations in POMT2. JNNP 2018; 89:506-512.
  2. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  3. Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130:2725-2735.
  4. Biancheri R, Falace A, Tessa A, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun 2007; 363:1033-1037.

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