Encyclopedia of Molecular Mechanisms of Disease

2009 Edition
| Editors: Florian Lang

Limb Girdle Muscular Dystrophy Type 2G

  • Eloisa De Sá Moreira
  • Mariz Vainzof
  • Mayana Zatz
  • Maria Rita Passos-Bueno
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-29676-8_2615
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Synonyms

Telethoninopathy

Definition and Characteristics

Autosomal recessive, relatively mild form of progressive neuromuscular disorder with a wide spectrum of inter- and intra-familial clinical variability. The age at onset ranges from 9 to 15 years old and loss of ambulation occurs during the third or fourth decade in about 30% of the patients. Clinical features include proximal involvement and marked weakness and/or atrophy in the distal muscles of the legs. Asymmetric calf hypertrophy is a common sign. Heart involvement is not rare. Serum CK is 3-fold to 30-fold increased. Muscle biopsy shows a dystrophic pattern, including rimmed vacuoles.

Prevalence

Described first in five unrelated Brazilian families [1] and confirmed in three additional Brazilian families in 2005 [2]. Represents about 1–2% of the AR-LGMD forms. The prevalence of LGMDs ranges from 1 in 14,000 to 1 in 20,000.

Genes

T-CAP, mapped at 17q11–12. One prevalent pathogenic change was identified in seven families in a...

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References

  1. 1.
    Moreira ES, Wiltshire TJ, Faulkner G et al. (2000) Nat Genet 24:163–166PubMedGoogle Scholar
  2. 2.
    Lima BL, Gouveia TL, Pavanello RC, Faulkner G, Valle G, Zatz M, Vainzof M (2005) Neuron Disord 15:687Google Scholar
  3. 3.
    Gregório CC, Trombitás K, Centner T et al. (1998) J Cell Biol 143:1013–1027PubMedGoogle Scholar
  4. 4.
    Valle G, Faulkner G, De Antoni A et al. (1997) FEBS Lett 415:163–168PubMedGoogle Scholar
  5. 5.
    Vainzof M, Moreira ES, Suzuki OT et al. (2002) Biophys Acta 588:33–40Google Scholar

Copyright information

© Springer-Verlag GmbH Berlin Heidelberg 2009

Authors and Affiliations

  • Eloisa De Sá Moreira
    • 1
  • Mariz Vainzof
    • 1
  • Mayana Zatz
    • 1
  • Maria Rita Passos-Bueno
    • 1
  1. 1.Human Genome Research Center, Department of Genetics and Evolutionary Biology, Institute of BiosciencesUniversity of São PauloSão PauloBrazil