Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

• 影响指数: 3.538
• 发表时间: Dec 2013
• 来源期刊: Neuromuscul Disord
• DOI: 10.1016/j.nmd.2013.07.003
• PMID: 24095155
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 医学
• 作者列表: Malfatti E,Schaeffer U,Chapon F,Yang Y,Eymard B,Xu R,Laporte J,Romero NB

关键词: Cap disease; Congenital structural myopathies; Exome sequencing; Nemaline myopathies

Mesh: Adult; DNA Mutational Analysis; Humans; Male; Microscopy, Electron, Transmission; Muscle, Skeletal / pathology ultrastructure; Mutation / genetics; Myopathies, Nemaline / complications genetics pathology; Myopathies, Structural, Congenital / complications genetics pathology; Tropomyosin / genetics

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\'.