Unusual findings in a TPM3 case


Mutations in the gene TPM3 (alpha-tropomysin (slow)) is a rare cause of nemaline myopathy Tropomyosin proteins regulate muscle contraction by controlling the binding of two muscle proteins, myosin and actin. Slow muscle α-tropomyosin is found only in type I fibers. Our case was given a diagnosis of ‘mild muscular dystrophy’ in 1968 when he was 18 years old. At that time, he was toe walking, unsteady on his feet and had pes cavus with demonstrable distal weakness. He represented at the age of 55 years with increasing difficulties climbing stairs and slopes and noticed his balance had deteriorated and he had developed a high stepping gait.


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