%0 Case Reports
%T Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
%A Moreno CAM
%A Estephan EP
%A Fappi A
%A Monges S
%A Lubieniecki F
%A Lopes Abath Neto O
%A Reed UC
%A Donkervoort S
%A Harms MB
%A Bonnemann C
%A Zanoteli E
%J Neuromuscul Disord
%V 30
%N 1
%D 01 2020
%M 31866162
%F 3.538
%R 10.1016/j.nmd.2019.11.001
%X 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.