Browsing by Subject "Muscular Diseases"
Now showing items 1-4 of 4
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Natural Progression of Canine Glycogen Storage Disease Type IIIa.
(Comp Med, 2016-02)Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications ... -
Self-reported pain and disability outcomes from an endogenous model of muscular back pain.
(BMC Musculoskelet Disord, 2011-02-02)BACKGROUND: Our purpose was to develop an induced musculoskeletal pain model of acute low back pain and examine the relationship among pain, disability and fear in this model. METHODS: Delayed onset muscle soreness was induced ... -
The junctophilin family of proteins: from bench to bedside.
(Trends in molecular medicine, 2014-06)Excitable tissues rely on junctional membrane complexes to couple cell surface signals to intracellular channels. The junctophilins have emerged as a family of proteins critical in coordinating the maturation and maintenance ... -
Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.
(Molecular genetics and metabolism, 2021-07)Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis ...