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limb-girdle muscular dystrophy; Erb's muscular dystrophy

Heterogeneous group of diseases characterized by progressive weakness of pelvic & shoulder girdle muscles. Pathology: muscle biopsy (see specific type) Genetics: - autosomal dominant & autosomal recessive forms Clinical manifestations: 1) high clinical variability severity of the disease depends on age at onset may vary from early to late childhood or even adulthood 2) progressive weakness of the pelvic & shoulder girdle muscles Laboratory: - elevated serum creatine kinase

Specific

limb-girdle muscular dystrophy type 1A (LGMD1A) limb-girdle muscular dystrophy type 1B (LGMD1B) limb-girdle muscular dystrophy type 1C (LGMD1C) limb-girdle muscular dystrophy type 2A (LGMD2A) limb-girdle muscular dystrophy type 2B (LGMD2B) limb-girdle muscular dystrophy type 2C (LGMD2C) limb-girdle muscular dystrophy type 2D (LGMD2D) limb-girdle muscular dystrophy type 2E (LGMD2E) limb-girdle muscular dystrophy type 2F (LGMD2F) limb-girdle muscular dystrophy type 2G (LGMD2G) limb-girdle muscular dystrophy type 2H; muscular dystrophy Hutterite type (LGMD2H) limb-girdle muscular dystrophy type 2I (LGMD2I) limb-girdle muscular dystrophy type 2J (LGMD2J) limb-girdle muscular dystrophy type 2N; muscular dystrophy-dystroglycanopathy limb-girdle type C2 (LGMD2N) limb-girdle muscular dystrophy type 2S (LGMD2S) muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) severe childhood autosomal recessive muscular dystrophy chromosome 17 locus

General

muscular dystrophy

Database Correlations

OMIM 159001

References

  1. Guglieri M, Straub V, Bushby K, Lochmuller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. Review. PMID: 18769252
  2. Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. Review. PMID: 17027860
  3. Angelini C. Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms. Acta Myol. 2004 Dec;23(3):130-6. Review. PMID: 15938568
  4. Laval SH, Bushby KM. Limb-girdle muscular dystrophies--from genetics to molecular pathology. Neuropathol Appl Neurobiol. 2004 Apr;30(2):91-105. Review. PMID: 15043707
  5. Mathews KD, Moore SA. Limb-girdle muscular dystrophy. Curr Neurol Neurosci Rep. 2003 Jan;3(1):78-85. Review. PMID: 12507416
  6. Piccolo F, Moore SA, Mathews KD, Campbell KP. Limb-girdle muscular dystrophies. Adv Neurol. 2002;88:273-91. Review. PMID: 11908231
  7. Zatz M, Vainzof M, Passos-Bueno MR. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol. 2000 Oct;13(5):511-7. Review. PMID: 11073356
  8. Bushby KM. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet. 1999;8(10):1875-82. Review. PMID: 10469840