%0 Case Reports
%T Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
%A Malfatti E
%A Schaeffer U
%A Chapon F
%A Yang Y
%A Eymard B
%A Xu R
%A Laporte J
%A Romero NB
%J Neuromuscul Disord
%V 23
%N 12
%D Dec 2013
%M 24095155
%F 3.538
%R 10.1016/j.nmd.2013.07.003
%X 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'.