GTR Home > Conditions/Phenotypes > Myostatin-related muscle hypertrophy

Disease characteristics

Excerpted from the GeneReview: Myostatin-Related Muscle Hypertrophy
Myostatin-related muscle hypertrophy is characterized by reduced subcutaneous fat pad thickness and increased muscle size in individuals with normal or increased muscle strength. Both heterozygotes and homozygotes for a mutation in MSTN encoding the protein growth differentiation factor 8 (myostatin) can exhibit muscle hypertrophy. Clinical manifestations depend on the amount of myostatin protein present. An infant homozygous for an MSTN mutation had muscle mass twice that of sex- and age-matched controls; intellect and cardiac function were normal. He displayed stimulus-induced myoclonus that subsided after two months. Heterozygotes may have increased muscle bulk and strength, but to a lesser degree.

Associated genes

  • Also known as: GDF8, MSLHP, MSTN
    Summary: myostatin

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