{Reference Type}: Case Reports
{Title}: Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
{Author}: Malfatti E;Schaeffer U;Chapon F;Yang Y;Eymard B;Xu R;Laporte J;Romero NB;
{Journal}: Neuromuscul Disord
{Volume}: 23
{Issue}: 12
{Year}: Dec 2013
{Factor}: 3.538
{DOI}: 10.1016/j.nmd.2013.07.003
{Abstract}: The slow α-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here we describe a patient presenting an early-onset congenital myopathy associated with a combination of well separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed us to identify a de novo missense mutation in the TPM3 gene. Our study confirms the extreme variability of morphological findings in TPM3-related myopathies, and proves that cap and nemaline bodies are two sides of the same 'coin'.