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limb-girdle muscular dystrophy type 2G (LGMD2G)

Pathology: - dystrophic changes on muscle biopsy - absence of muscle telethonin (TCAP) - cardiac muscle is involved in a subset of patients Genetics: - autosomal recessive - associated with defects in TCAP Clinical manifestations: - proximal & distal muscle weakness - atrophy in the limbs

Database Correlations

OMIM 601954

References

  1. UniProt :accession O15273P