Study of Muscle Abnormalities in Patients With Specific Genetic Mutations

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Dec 9, 2002

Keywords

ClinConnect Summary

Mutations of the fast alpha-tropomyosin gene cause hypertrophic cardiomyopathy (HCM), and are also expressed in skeletal muscle. However, the skeletal phenotype is undetermined. We have identified three families in which HCM is caused by an alpha-tropomyosin mutation. Several family members of one of these kindreds have also inherited a distinct skeletal myopathy called oculopharyngeal muscular dystrophy (OPMD) which is caused by mutations of the poly(A) binding protein-2 gene (PABP2). The pathologic hallmark of this disease is unique nuclear filament inclusions in skeletal muscle fibers. I...

Gender

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Eligibility criteria

• • Patients will be of either gender, aged 10-80 years old, in whom alpha-tropomyosin and PABP2 genotypes have been determined under protocols 87-H-0057 and 98-H-0100.
• • No bleeding diathesis.
• • Negative urine test for pregnancy.
• • No skin infection at site of biopsy.