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(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and acquired inflammatory myopathies. Here, we investigated underlying causes of this triad of clinical signs in four young French bulldogs via muscle histopathology coupled with whole genome and Sanger sequencing. (2) Methods: Dogs were evaluated by veterinary clinical internists and neurologists, and biopsies were obtained for histopathological diagnosis. DNA was submitted for whole genome sequencing, followed by bioinformatics evaluation and confirmation of variants via Sanger sequencing in two cases. (3) Results: Two novel variants were identified. The first, found in two related French bulldogs, was a homozygous variant in the chloride channel gene CLCN1 known to cause non-dystrophic congenital myotonia, and the second, found in an unrelated French bulldog, was a heterozygous variant in the cAMP phosphodiesterase gene PDE4C, which is the major phosphodiesterase expressed in skeletal muscle and may play a role in decreasing muscle atrophy. An underlying molecular basis in one other case has not yet been identified. (4) Conclusions: Here, we identified two novel variants, one in the CLCN1 and one in the PDE4C gene, associated with clinical signs of muscle hypertrophy, dysphagia, and gait abnormalities, and we suggested other bases of these phenotypes in French bulldogs that are yet to be discovered. Identification of genes and deleterious variants associated with these clinical signs may assist breeders in improving the overall health of this very popular breed and may lead to the identification of new therapies to reverse muscle atrophy in people and animals with neuromuscular diseases. Full article

Swallowing is a complex sequence of highly regulated and coordinated skeletal and smooth muscle activity. Previous studies have attempted to determine the temporal relationship between the muscles to establish the activation sequence pattern, assessing functional muscle coordination with cross-correlation or coherence, which is seriously impaired by volume conduction. In the present work, we used conditional Granger causality from surface electromyography signals to analyse the directed functional coordination between different swallowing muscles in both healthy and dysphagic subjects ingesting saliva, water, and yoghurt boluses. In healthy individuals, both bilateral and ipsilateral muscles showed higher coupling strength than contralateral muscles. We also found a dominant downward direction in ipsilateral supra and infrahyoid muscles. In dysphagic subjects, we found a significantly higher right-to-left infrahyoid, right ipsilateral infra-to-suprahyoid, and left ipsilateral supra-to-infrahyoid interactions, in addition to significant differences in the left ipsilateral muscles between bolus types. Our results suggest that the functional coordination analysis of swallowing muscles contains relevant information on the swallowing process and possible dysfunctions associated with dysphagia, indicating that it could potentially be used to assess the progress of the disease or the effectiveness of rehabilitation therapies. Full article