Condition: NEMALINE MYOPATHY 8


rs1186218257 in KLHL40 gene and NEMALINE MYOPATHY 8 PMID 23746549 2013 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

PMID 26754003 2016 KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

PMID 27762439 2016 Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.

PMID 27528495 2016 Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).