Publications by authors named "Tzu-Min Kan"
Background: Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD varies among different ethnic populations. This study for the first time analyzed the phenotypes and genotypes in Taiwanese patients with LGMD in a referral center for neuromuscular diseases (NMDs).
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- The study focused on identifying gene mutations responsible for congenital hemolytic anemia due to defects in red blood cell (RBC) membranes among patients in Taiwan.
- Researchers utilized whole-exome sequencing (WES) and confirmed their findings with Sanger sequencing, identifying five significant variants across four patients.
- The findings highlighted the efficacy of WES for diagnosing RBC membrane disorders and underscored the need for further research to better understand the mutation landscape in this population.
Background: Pompe disease is an inherited autosomal recessive deficiency of acid α-glucosidase (GAA) and is due to pathogenic sequence variants in the corresponding GAA gene. While the analysis of enzyme activity remains the diagnostic test of choice for individuals with Pompe disease, mutation analysis remains for establishing a definitive diagnosis.
Methods: High resolution melting (HRM) analysis was performed to screen GAA mutations.
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease with the leading genetic cause of infant mortality. More than 95% of patients with SMA have a homozygous disruption in the survival motor neuron1 (SMN1) gene, caused by mutation, deletion, or rearrangement. Recently, treatment in humans in the immediate postnatal period, prior to the development of weakness or very early in the course of the disease, may be effective.
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