Condition: Increased variability in muscle fiber diameter


rs121908557 in SCN4A;LOC105371858 gene and Increased variability in muscle fiber diameter PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].

rs1114167445 in SPTBN4 gene and Increased variability in muscle fiber diameter PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.