Michel Fardeau

TL;DR: A genetic linkage analysis of the chronic forms of spinal muscular atrophies found no evidence for genetic heterogeneity was found for types II and III in this study, suggesting that these two forms are allelic disorders.

TL;DR: It is shown here that mutations in the nebulin gene located within this region are associated with the disease, and immunofluorescence studies with antibodies specific to the C-terminal region of nebulin indicate that the mutations may cause protein truncation possibly associated with loss of fiber-type diversity, which may be relevant to disease pathogenesis.

TL;DR: The aim was to delineate the phenotype and determine the genetic defects in two consanguineous families with an early‐onset, recessive muscle and cardiac disorder.

TL;DR: Although onset of progressive muscle weakness occurred during adulthood in all cases but one, presence of mild, nonprogressive muscular symptoms appearing during childhood was detected in 16 patients, and the absence of genotype–phenotype correlation suggests a complex physiopathology that requires further investigations.

TL;DR: Comparing muscle imaging findings in different subtypes of myofibrillar myopathies in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders is compared.