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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2i (lgmd 2i): Genetics This is n α dystroglycanopathy It is caused by mutations in the FKRP gene on chromosome 19q13 It is most frequent in Japan Neurological features Cardiac features Respiratory features Differential…

Genetics

  • This is n α dystroglycanopathy
  • It is caused by mutations in the FKRP gene on chromosome 19q13
  • It is most frequent in Japan

Neurological features

Cardiac features

Respiratory features

Differential diagnosis

Muscle biopsy

Muscle magnetic resonance imaging (MRI): features

Other investigations

Treatment

Synonyms

Acronym

References

  1. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9:314-323. 
  2. Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003; 60:1246-1251.
  3. Mathews KD, Stephan CM, Laubenthal K, et al. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology 2011; 76:194-195. 
  4. Poppe M, Bourke J, Eagle M, et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 2004; 56:738-741.
  5. Bourteel H, Vermersch P, Cuisset JM, et al. Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. JNNP 2009; 80:1405-1408. 
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