Patent ID: 6858395

Claim:
A method for identifying an individual exhibiting symptoms of a muscular dystrophy as an individual suffering from scapuloperoneal muscular dystrophy, said method comprising the steps of: (a) obtaining a muscle tissue sample from an individual exhibiting symptoms of a dystrophy, wherein said individual is at least teen-aged and wherein said symptoms affecting the muscles of the shoulder girdle and peroneal, wherein said tissue sample is obtained from a tissue known in a normal individual to express α7A integrin; (b) detecting a transcription product of an α7A integrin gene using hybridization or reverse transcriptase-polymerase chain reaction or a translation product of an α7A integrin gene using a detectable antibody specific for α7A integrin in said tissue sample; (c) determining a level of the transcription or translation product of the α7A integrin gene in said tissue sample as compared with a level of the transcription or translation product of the integrin gene in a tissue sample from the same tissue of a normal individual; (d) diagnosing scapuloperoneal muscular dystrophy when the tissue sample of an individual exhibiting muscular dystrophy symptoms comprises a level of a transcription or translation product of the α7A integrin gene in said tissue sample which is lower than the level in a tissue sample from the same tissue of a normal individual.