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lüll Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion Lawlor MW; Dechene ET; Roumm E; Geggel AS; Moghadaszadeh B; Beggs AHHum Mutat 2010[Feb]; 31 (2): 176-83Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases. The muscle tropomyosin 3 gene, TPM3, is mutated in rare cases of nemaline myopathy that typically exhibit type 1 fiber hypotrophy with nemaline rods, and recently mutations in the TPM3 gene were also found to cause CFTD. We screened the TPM3 gene in patients with a clinical diagnosis of CFTD, nemaline myopathy, and with undefined congenital myopathies. Mutations in TPM3 were identified in 6 out of 13 patients with CFTD, as well as in one case of nemaline myopathy. Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance. Several mutation-negative cases exhibited other abnormalities, such as central nuclei and central cores. These results support the utility of the CFTD diagnosis in directing the course of genetic testing.|*Genetic Predisposition to Disease[MESH]|Adult[MESH]|Child[MESH]|Female[MESH]|Humans[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Male[MESH]|Middle Aged[MESH]|Muscle Fibers, Skeletal/*pathology[MESH]|Mutation/*genetics[MESH]|Myopathies, Nemaline/complications/*genetics/pathology[MESH]|Myopathies, Structural, Congenital/complications/*genetics/*pathology[MESH]|Tropomyosin/*genetics[MESH] |