Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree. Here, we report the identification of a second large VCPDM family of Bulgarian descent and fine mapping of the critical interval. Sequencing of positional candidate genes revealed precisely the same nonconservative S85C missense mutation affecting an interspecies conserved residue in the MATR3 gene in both families. MATR3 is expressed in skeletal muscle and encodes matrin 3, a component of the nuclear matrix, which is a proteinaceous network that extends throughout the nucleus. Different disease related haplotype signatures in the two families provided evidence that two independent mutational events at the same position in MATR3 cause VCPDM. Our data establish proof of principle that the nuclear matrix is crucial for normal skeletal muscle structure and function and put VCPDM on the growing list of monogenic disorders associated with the nuclear proteome.

Accurate flow measurement is a ubiquitous task in fields such as industry, medical technology, or chemistry; it remains however challenging due to small measurement ranges or erosive flows. Inspiration for possible measurement methods can come from nature, for example from the lateral line organ of fish, which is comprised of hair cells embedded in a gelatinous cupula. When the cupula is deflected by water movement, the hair cells generate neural signals from which the fish gains an accurate representation of its environment. We built a flow sensor mimicking a hair cell, but coupled it with an optical detection method. Light is coupled into a PDMS waveguide that consists of a core and a cladding with a low refractive index contrast to ensure high bending sensitivity. Fluid flow bends the waveguide; this leads to a measurable light loss. The design of our sensory system allows flow measurement in opaque and corrosive fluids while keeping production costs low. To prove the measurement concept, we evaluated the light loss while (a) reproducibly bending the fiber with masses, and (b) exposing the fiber to air flow. The results demonstrate the applicability of an optical fiber as a flow sensor.