{Reference Type}: Case Reports
{Title}: Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
{Author}: Seferian AM;Malfatti E;Bosson C;Pelletier L;Taytard J;Forin V;Gidaro T;Gargaun E;Carlier P;Fauré J;Romero NB;Rendu J;Servais L;
{Journal}: Neuromuscul Disord
{Volume}: 26
{Issue}: 10
{Year}: 10 2016
{Factor}: 3.538
{DOI}: 10.1016/j.nmd.2016.07.011
{Abstract}: Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy.