{Reference Type}: Case Reports
{Title}: Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
{Author}: Moreno CAM;Estephan EP;Fappi A;Monges S;Lubieniecki F;Lopes Abath Neto O;Reed UC;Donkervoort S;Harms MB;Bonnemann C;Zanoteli E;
{Journal}: Neuromuscul Disord
{Volume}: 30
{Issue}: 1
{Year}: 01 2020
{Factor}: 3.538
{DOI}: 10.1016/j.nmd.2019.11.001
{Abstract}: Congenital fiber type disproportion (CFTD) is a rare congenital myopathy subtype defined by slow type 1 hypotrophy in the absence of any other major structural findings such as rods, central nuclei or cores. Dominant missense changes in slow alpha-tropomyosin coded by TPM3 gene are the main cause of the CFTD. There are only a few reports of recessive loss-of-function mutations in TPM3 causing severe Nemaline Myopathy and CFTD. We present two patients harboring TPM3 mutations. The first is a novel homozygous missense variant with a mild CFTD clinical phenotype inherited in a recessive fashion. The second is a previously reported heterozygous mutation presenting within pronounced early axial involvement and dropped head. This report expands the genotype-phenotype correlation in the TPM3 myopathy showing a recessive mutation causing a mild clinical phenotype and also shows that TPM3 mutations should be part of the investigation in patients with dropped head.