Nemaline Myopathy 5a, Autosomal Recessive, Severe Infantile (NEM5A)

Nemaline Myopathy 5a, Autosomal Recessive, Severe Infantile, also known as amish nemaline myopathy, is related to nemaline myopathy 5a and nemaline myopathy. An important gene associated with Nemaline Myopathy 5a, Autosomal Recessive, Severe Infantile is TNNT1 (Troponin T1, Slow Skeletal Type). Affiliated tissues include skeletal muscle, and related phenotypes are tremor and pectus carinatum.